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dbVar

Database of genomic structural variation

nsv4372578

Organism: Homo sapiens

Study:nstd173 (Zarrei et al. 2019)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:60,545

Publication(s):Zarrei et al. 2019

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: 439 SVs from 73 studies. See in: genome view

Remapped(Score: Perfect):45,347,119-45,407,663

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4372578	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	45,347,119	45,407,663
nsv4372578	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	45,850,377	45,910,921

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15634898	copy number gain	12-4404-004	SNP array	Genotyping	25
nssv15639476	copy number gain	14-0189-004	SNP array	Genotyping	22
nssv15639780	copy number gain	14-0189-003	SNP array	Genotyping	18
nssv15644825	copy number gain	16-1010-001	SNP array	Genotyping	24
nssv15645974	copy number gain	16-1010-003	SNP array	Genotyping	22

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15634898	Remapped	Perfect	NC_000019.10:g.(?_ 45347119)_(4540766 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	45,347,119	45,407,663
nssv15639476	Remapped	Perfect	NC_000019.10:g.(?_ 45347119)_(4540766 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	45,347,119	45,407,663
nssv15639780	Remapped	Perfect	NC_000019.10:g.(?_ 45347119)_(4540766 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	45,347,119	45,407,663
nssv15644825	Remapped	Perfect	NC_000019.10:g.(?_ 45347119)_(4540766 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	45,347,119	45,407,663
nssv15645974	Remapped	Perfect	NC_000019.10:g.(?_ 45347119)_(4540766 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	45,347,119	45,407,663
nssv15634898	Submitted genomic		NC_000019.9:g.(?_4 5850377)_(45910921 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	45,850,377	45,910,921
nssv15639476	Submitted genomic		NC_000019.9:g.(?_4 5850377)_(45910921 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	45,850,377	45,910,921
nssv15639780	Submitted genomic		NC_000019.9:g.(?_4 5850377)_(45910921 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	45,850,377	45,910,921
nssv15644825	Submitted genomic		NC_000019.9:g.(?_4 5850377)_(45910921 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	45,850,377	45,910,921
nssv15645974	Submitted genomic		NC_000019.9:g.(?_4 5850377)_(45910921 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	45,850,377	45,910,921

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

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