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dbVar

Database of genomic structural variation

nsv5599552

Organism: Homo sapiens

Study:nstd207 (Ebert et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:162

Publication(s):Ebert et al. 2021

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: 111 SVs from 31 studies. See in: genome view

Submitted genomic67,399,445-67,399,606

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5599552	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	67,399,445	67,399,606
nsv5599552	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	67,866,162	67,866,323

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17096729	deletion	SAMN00001695	Sequencing	Sequence alignment	6,153

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17096729	Submitted genomic		NC_000014.9:g.6739 9445_67399606delG	GRCh38 (hg38)		NC_000014.9	Chr14	67,399,445	67,399,606
nssv17096729	Remapped	Perfect	NC_000014.8:g.6786 6162_67866323delG	GRCh37.p13	First Pass	NC_000014.8	Chr14	67,866,162	67,866,323

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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