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dbVar

Database of genomic structural variation

nsv5571694

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:2,848

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: 115 SVs from 35 studies. See in: genome view

Submitted genomic173,068,983-173,071,830

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5571694	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	173,068,983	173,071,830
nsv5571694	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	172,495,986	172,498,833

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17124892	deletion	SAMN00007882	Sequencing	Sequence alignment	1,354

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17124892	Submitted genomic		NC_000005.10:g.173 068983_173071830de lA	GRCh38 (hg38)		NC_000005.10	Chr5	173,068,983	173,071,830
nssv17124892	Remapped	Perfect	NC_000005.9:g.1724 95986_172498833del A	GRCh37.p13	First Pass	NC_000005.9	Chr5	172,495,986	172,498,833

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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