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dbVar

Database of genomic structural variation

nsv5566289

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:82

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: 154 SVs from 25 studies. See in: genome view

Submitted genomic137,893,950-137,894,031

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5566289	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	137,893,950	137,894,031
nsv5566289	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	138,651,520	138,651,601

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17109255	deletion	SAMN00001229	Sequencing	Sequence alignment	1,149

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17109255	Submitted genomic		NC_000002.12:g.137 893950_137894031de lT	GRCh38 (hg38)		NC_000002.12	Chr2	137,893,950	137,894,031
nssv17109255	Remapped	Perfect	NC_000002.11:g.138 651520_138651601de lT	GRCh37.p13	First Pass	NC_000002.11	Chr2	138,651,520	138,651,601

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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