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dbVar

Database of genomic structural variation

nsv5939683

Organism: Homo sapiens

Study:nstd209 (Almarri et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:1,193

Publication(s):Almarri et al. 2020

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

Submitted genomic105,486,074-105,487,266

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5939683	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	105,486,074	105,487,266
nsv5939683	Remapped	Perfect	GRCh37.p13	Primary Assembly	Second Pass	NC_000014.8	Chr14	105,952,411	105,953,603
nsv5939683	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_004166863.1	Chr14\|NW_0 04166863.1	149,241	150,433

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17369873	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17369873	Submitted genomic		NC_000014.9:g.1054 86074_105487266del	GRCh38 (hg38)		NC_000014.9	Chr14	105,486,074	105,487,266
nssv17369873	Remapped	Perfect	NW_004166863.1:g.1 49241_150433del	GRCh37.p13	First Pass	NW_004166863.1	Chr14\|NW_0 04166863.1	149,241	150,433
nssv17369873	Remapped	Perfect	NC_000014.8:g.1059 52411_105953603del	GRCh37.p13	Second Pass	NC_000014.8	Chr14	105,952,411	105,953,603

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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