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dbVar

Database of genomic structural variation

nsv3317208

Organism: Homo sapiens

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

Variant Calls:8
Validation:Not tested
Clinical Assertions: No
Region Size:6,183

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: 108 SVs from 28 studies. See in: genome view

Remapped(Score: Perfect):7,989,938-7,996,120

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3317208	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	7,989,938	7,996,120
nsv3317208	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	8,130,069	8,136,251

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14468734	copy number loss	M2177	SNP array	SNP genotyping analysis	15
nssv14468876	copy number loss	M2187	SNP array	SNP genotyping analysis	20
nssv14469164	copy number loss	M2210	SNP array	SNP genotyping analysis	15
nssv14469314	copy number loss	M2224	SNP array	SNP genotyping analysis	16
nssv14469394	copy number loss	M2232	SNP array	SNP genotyping analysis	12
nssv14470660	copy number loss	M2366	SNP array	SNP genotyping analysis	23
nssv14470860	copy number loss	M2387	SNP array	SNP genotyping analysis	15
nssv14471123	copy number loss	M2408	SNP array	SNP genotyping analysis	13

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14468734	Remapped	Perfect	NC_000002.12:g.(?_ 7989938)_(7996120_ ?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	7,989,938	7,996,120
nssv14468876	Remapped	Perfect	NC_000002.12:g.(?_ 7989938)_(7996120_ ?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	7,989,938	7,996,120
nssv14469164	Remapped	Perfect	NC_000002.12:g.(?_ 7989938)_(7996120_ ?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	7,989,938	7,996,120
nssv14469314	Remapped	Perfect	NC_000002.12:g.(?_ 7989938)_(7996120_ ?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	7,989,938	7,996,120
nssv14469394	Remapped	Perfect	NC_000002.12:g.(?_ 7989938)_(7996120_ ?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	7,989,938	7,996,120
nssv14470660	Remapped	Perfect	NC_000002.12:g.(?_ 7989938)_(7996120_ ?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	7,989,938	7,996,120
nssv14470860	Remapped	Perfect	NC_000002.12:g.(?_ 7989938)_(7996120_ ?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	7,989,938	7,996,120
nssv14471123	Remapped	Perfect	NC_000002.12:g.(?_ 7989938)_(7996120_ ?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	7,989,938	7,996,120
nssv14468734	Submitted genomic		NC_000002.11:g.(?_ 8130069)_(8136251_ ?)del	GRCh37 (hg19)		NC_000002.11	Chr2	8,130,069	8,136,251
nssv14468876	Submitted genomic		NC_000002.11:g.(?_ 8130069)_(8136251_ ?)del	GRCh37 (hg19)		NC_000002.11	Chr2	8,130,069	8,136,251
nssv14469164	Submitted genomic		NC_000002.11:g.(?_ 8130069)_(8136251_ ?)del	GRCh37 (hg19)		NC_000002.11	Chr2	8,130,069	8,136,251
nssv14469314	Submitted genomic		NC_000002.11:g.(?_ 8130069)_(8136251_ ?)del	GRCh37 (hg19)		NC_000002.11	Chr2	8,130,069	8,136,251
nssv14469394	Submitted genomic		NC_000002.11:g.(?_ 8130069)_(8136251_ ?)del	GRCh37 (hg19)		NC_000002.11	Chr2	8,130,069	8,136,251
nssv14470660	Submitted genomic		NC_000002.11:g.(?_ 8130069)_(8136251_ ?)del	GRCh37 (hg19)		NC_000002.11	Chr2	8,130,069	8,136,251
nssv14470860	Submitted genomic		NC_000002.11:g.(?_ 8130069)_(8136251_ ?)del	GRCh37 (hg19)		NC_000002.11	Chr2	8,130,069	8,136,251
nssv14471123	Submitted genomic		NC_000002.11:g.(?_ 8130069)_(8136251_ ?)del	GRCh37 (hg19)		NC_000002.11	Chr2	8,130,069	8,136,251

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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