nsv6625275

Organism: Homo sapiens

Study:nstd224 (Zarrei et al. 2023)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37

Variant Calls:18
Validation:Not tested
Clinical Assertions: No
Region Size:20,400

Publication(s):Zarrei et al. 2023

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 484 SVs from 80 studies. See in: genome view

Remapped(Score: Perfect):52,821,267-52,841,666

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6625275	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	52,821,267	52,841,666
nsv6625275	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	53,324,520	53,344,919

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv18305829	duplication	OSC6437	SNP array	Probe signal intensity	10
nssv18306166	duplication	OSC6448	SNP array	Probe signal intensity	5
nssv18306875	duplication	OSC6740	SNP array	Probe signal intensity	10
nssv18307643	duplication	OSC6797	SNP array	Probe signal intensity	nssv18307642, nssv18307878, nssv18308222
nssv18308473	deletion	OSC6751	SNP array	Probe signal intensity	5
nssv18308478	duplication	OSC6759	SNP array	Probe signal intensity	9
nssv18308739	duplication	OSC6910	SNP array	Probe signal intensity	9
nssv18309414	duplication	OSC6995	SNP array	Probe signal intensity	19
nssv18311264	duplication	OSC7421	SNP array	Probe signal intensity	9
nssv18311854	duplication	OSC7386	SNP array	Probe signal intensity	17
nssv18312804	duplication	OSC7565	SNP array	Probe signal intensity	12
nssv18312883	duplication	OSC7629	SNP array	Probe signal intensity	9
nssv18313344	duplication	OSC7607	SNP array	Probe signal intensity	5
nssv18313766	duplication	OSC7900	SNP array	Probe signal intensity	7
nssv18315064	duplication	OSC8136	SNP array	Probe signal intensity	9
nssv18315293	duplication	OSC8019	SNP array	Probe signal intensity	9
nssv18315501	duplication	OSC7994	SNP array	Probe signal intensity	11
nssv18317751	duplication	OSC8420	SNP array	Probe signal intensity	9

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18305829	Remapped	Perfect	NC_000019.10:g.(?_ 52821267)_(5284166 6_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	52,821,267	52,841,666
nssv18306166	Remapped	Perfect	NC_000019.10:g.(?_ 52821267)_(5284166 6_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	52,821,267	52,841,666
nssv18306875	Remapped	Perfect	NC_000019.10:g.(?_ 52821267)_(5284166 6_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	52,821,267	52,841,666
nssv18307643	Remapped	Perfect	NC_000019.10:g.(?_ 52821267)_(5284166 6_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	52,821,267	52,841,666
nssv18308473	Remapped	Perfect	NC_000019.10:g.(?_ 52821267)_(5284166 6_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	52,821,267	52,841,666
nssv18308478	Remapped	Perfect	NC_000019.10:g.(?_ 52821267)_(5284166 6_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	52,821,267	52,841,666
nssv18308739	Remapped	Perfect	NC_000019.10:g.(?_ 52821267)_(5284166 6_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	52,821,267	52,841,666
nssv18309414	Remapped	Perfect	NC_000019.10:g.(?_ 52821267)_(5284166 6_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	52,821,267	52,841,666
nssv18311264	Remapped	Perfect	NC_000019.10:g.(?_ 52821267)_(5284166 6_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	52,821,267	52,841,666
nssv18311854	Remapped	Perfect	NC_000019.10:g.(?_ 52821267)_(5284166 6_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	52,821,267	52,841,666
nssv18312804	Remapped	Perfect	NC_000019.10:g.(?_ 52821267)_(5284166 6_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	52,821,267	52,841,666
nssv18312883	Remapped	Perfect	NC_000019.10:g.(?_ 52821267)_(5284166 6_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	52,821,267	52,841,666
nssv18313344	Remapped	Perfect	NC_000019.10:g.(?_ 52821267)_(5284166 6_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	52,821,267	52,841,666
nssv18313766	Remapped	Perfect	NC_000019.10:g.(?_ 52821267)_(5284166 6_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	52,821,267	52,841,666
nssv18315064	Remapped	Perfect	NC_000019.10:g.(?_ 52821267)_(5284166 6_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	52,821,267	52,841,666
nssv18315293	Remapped	Perfect	NC_000019.10:g.(?_ 52821267)_(5284166 6_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	52,821,267	52,841,666
nssv18315501	Remapped	Perfect	NC_000019.10:g.(?_ 52821267)_(5284166 6_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	52,821,267	52,841,666
nssv18317751	Remapped	Perfect	NC_000019.10:g.(?_ 52821267)_(5284166 6_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	52,821,267	52,841,666
nssv18305829	Submitted genomic		NC_000019.9:g.(?_5 3324520)_(53344919 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,324,520	53,344,919
nssv18306166	Submitted genomic		NC_000019.9:g.(?_5 3324520)_(53344919 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,324,520	53,344,919
nssv18306875	Submitted genomic		NC_000019.9:g.(?_5 3324520)_(53344919 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,324,520	53,344,919
nssv18307643	Submitted genomic		NC_000019.9:g.(?_5 3324520)_(53344919 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,324,520	53,344,919
nssv18308473	Submitted genomic		NC_000019.9:g.(?_5 3324520)_(53344919 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	53,324,520	53,344,919
nssv18308478	Submitted genomic		NC_000019.9:g.(?_5 3324520)_(53344919 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,324,520	53,344,919
nssv18308739	Submitted genomic		NC_000019.9:g.(?_5 3324520)_(53344919 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,324,520	53,344,919
nssv18309414	Submitted genomic		NC_000019.9:g.(?_5 3324520)_(53344919 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,324,520	53,344,919
nssv18311264	Submitted genomic		NC_000019.9:g.(?_5 3324520)_(53344919 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,324,520	53,344,919
nssv18311854	Submitted genomic		NC_000019.9:g.(?_5 3324520)_(53344919 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,324,520	53,344,919
nssv18312804	Submitted genomic		NC_000019.9:g.(?_5 3324520)_(53344919 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,324,520	53,344,919
nssv18312883	Submitted genomic		NC_000019.9:g.(?_5 3324520)_(53344919 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,324,520	53,344,919
nssv18313344	Submitted genomic		NC_000019.9:g.(?_5 3324520)_(53344919 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,324,520	53,344,919
nssv18313766	Submitted genomic		NC_000019.9:g.(?_5 3324520)_(53344919 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,324,520	53,344,919
nssv18315064	Submitted genomic		NC_000019.9:g.(?_5 3324520)_(53344919 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,324,520	53,344,919
nssv18315293	Submitted genomic		NC_000019.9:g.(?_5 3324520)_(53344919 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,324,520	53,344,919
nssv18315501	Submitted genomic		NC_000019.9:g.(?_5 3324520)_(53344919 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,324,520	53,344,919
nssv18317751	Submitted genomic		NC_000019.9:g.(?_5 3324520)_(53344919 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,324,520	53,344,919

dbVar

Database of genomic structural variation

nsv6625275

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant