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dbVar

Database of genomic structural variation

nsv4365913

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:21,224

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: 542 SVs from 75 studies. See in: genome view

Remapped(Score: Perfect):53,013,989-53,035,212

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4365913	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	53,013,989	53,035,212
nsv4365913	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	53,517,242	53,538,465

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15624964	copy number gain	1-0340-002	SNP array	Genotyping	16
nssv15624983	copy number gain	1-0340-004	SNP array	Genotyping	20
nssv15701168	copy number gain	178898	SNP array	Genotyping	13

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15624964	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5303521 2_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,035,212
nssv15624983	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5303521 2_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,035,212
nssv15701168	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5303521 2_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,035,212
nssv15624964	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53538465 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,538,465
nssv15624983	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53538465 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,538,465
nssv15701168	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53538465 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,538,465

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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