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dbVar

Database of genomic structural variation

nsv3318376

Organism: Homo sapiens

Study:nstd157 (Frenkel et al. 2019)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:27,382

Publication(s):Frenkel 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: 365 SVs from 49 studies. See in: genome view

Remapped(Score: Good):111,081,730-111,109,111

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3318376	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	111,081,730	111,109,111
nsv3318376	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	110,417,428	110,444,810

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14468529	copy number gain	M2161	SNP array	SNP genotyping analysis	12
nssv14469251	copy number gain	M2218	SNP array	SNP genotyping analysis	21

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14468529	Remapped	Good	NC_000005.10:g.(?_ 111081730)_(111109 111_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	111,081,730	111,109,111
nssv14469251	Remapped	Good	NC_000005.10:g.(?_ 111081730)_(111109 111_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	111,081,730	111,109,111
nssv14468529	Submitted genomic		NC_000005.9:g.(?_1 10417428)_(1104448 10_?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	110,417,428	110,444,810
nssv14469251	Submitted genomic		NC_000005.9:g.(?_1 10417428)_(1104448 10_?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	110,417,428	110,444,810

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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