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dbVar

Database of genomic structural variation

nsv3318369

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:8,018

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: 307 SVs from 55 studies. See in: genome view

Remapped(Score: Perfect):88,958,723-88,966,740

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3318369	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	88,958,723	88,966,740
nsv3318369	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	88,588,037	88,596,054

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14469854	copy number loss	M2276	SNP array	SNP genotyping analysis	25
nssv14470828	copy number loss	M2383	SNP array	SNP genotyping analysis	23

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14469854	Remapped	Perfect	NC_000007.14:g.(?_ 88958723)_(8896674 0_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	88,958,723	88,966,740
nssv14470828	Remapped	Perfect	NC_000007.14:g.(?_ 88958723)_(8896674 0_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	88,958,723	88,966,740
nssv14469854	Submitted genomic		NC_000007.13:g.(?_ 88588037)_(8859605 4_?)del	GRCh37 (hg19)		NC_000007.13	Chr7	88,588,037	88,596,054
nssv14470828	Submitted genomic		NC_000007.13:g.(?_ 88588037)_(8859605 4_?)del	GRCh37 (hg19)		NC_000007.13	Chr7	88,588,037	88,596,054

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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