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dbVar

Database of genomic structural variation

nsv3317366

Organism: Homo sapiens

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

Variant Calls:4
Validation:Not tested
Clinical Assertions: No
Region Size:5,196

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: 199 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):105,731,455-105,736,650

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3317366	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	105,731,455	105,736,650
nsv3317366	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	106,347,912	106,353,107

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14468344	copy number loss	M2143	SNP array	SNP genotyping analysis	20
nssv14468417	copy number loss	M2150	SNP array	SNP genotyping analysis	19
nssv14469107	copy number loss	M2201	SNP array	SNP genotyping analysis	16
nssv14469193	copy number loss	M2215	SNP array	SNP genotyping analysis	16

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14468344	Remapped	Perfect	NC_000002.12:g.(?_ 105731455)_(105736 650_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	105,731,455	105,736,650
nssv14468417	Remapped	Perfect	NC_000002.12:g.(?_ 105731455)_(105736 650_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	105,731,455	105,736,650
nssv14469107	Remapped	Perfect	NC_000002.12:g.(?_ 105731455)_(105736 650_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	105,731,455	105,736,650
nssv14469193	Remapped	Perfect	NC_000002.12:g.(?_ 105731455)_(105736 650_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	105,731,455	105,736,650
nssv14468344	Submitted genomic		NC_000002.11:g.(?_ 106347912)_(106353 107_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	106,347,912	106,353,107
nssv14468417	Submitted genomic		NC_000002.11:g.(?_ 106347912)_(106353 107_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	106,347,912	106,353,107
nssv14469107	Submitted genomic		NC_000002.11:g.(?_ 106347912)_(106353 107_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	106,347,912	106,353,107
nssv14469193	Submitted genomic		NC_000002.11:g.(?_ 106347912)_(106353 107_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	106,347,912	106,353,107

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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