Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv5595395

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:342

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: 278 SVs from 59 studies. See in: genome view

Submitted genomic133,514,088-133,514,429

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5595395	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000009.12	Chr9	133,514,088	133,514,429
nsv5595395	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	136,379,210	136,379,551

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17159984	deletion	SAMN00006579	Sequencing	Sequence alignment	23,265

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17159984	Submitted genomic		NC_000009.12:g.133 514088_133514429de lT	GRCh38 (hg38)		NC_000009.12	Chr9	133,514,088	133,514,429
nssv17159984	Remapped	Perfect	NC_000009.11:g.136 379210_136379551de lT	GRCh37.p13	First Pass	NC_000009.11	Chr9	136,379,210	136,379,551

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.

You are here: NCBI