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dbVar

Database of genomic structural variation

nsv4371748

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:59,386

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: 1138 SVs from 92 studies. See in: genome view

Remapped(Score: Perfect):40,827,364-40,886,749

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4371748	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	40,827,364	40,886,749
nsv4371748	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	41,333,269	41,392,654

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15620597	copy number loss	1-0974-003	SNP array	Genotyping	19
nssv15670091	copy number loss	7-0256-003	SNP array	Genotyping	22
nssv15675649	copy number loss	9-0045-001	SNP array	Genotyping	21

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15620597	Remapped	Perfect	NC_000019.10:g.(?_ 40827364)_(4088674 9_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	40,827,364	40,886,749
nssv15670091	Remapped	Perfect	NC_000019.10:g.(?_ 40827364)_(4088674 9_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	40,827,364	40,886,749
nssv15675649	Remapped	Perfect	NC_000019.10:g.(?_ 40827364)_(4088674 9_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	40,827,364	40,886,749
nssv15620597	Submitted genomic		NC_000019.9:g.(?_4 1333269)_(41392654 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	41,333,269	41,392,654
nssv15670091	Submitted genomic		NC_000019.9:g.(?_4 1333269)_(41392654 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	41,333,269	41,392,654
nssv15675649	Submitted genomic		NC_000019.9:g.(?_4 1333269)_(41392654 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	41,333,269	41,392,654

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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