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

dbVar

Database of genomic structural variation

nsv5573495

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:62

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: 159 SVs from 34 studies. See in: genome view

Submitted genomic219,159,514-219,159,575

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5573495	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	219,159,514	219,159,575
nsv5573495	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	220,024,236	220,024,297

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17111455	deletion	HG03065	Sequencing	Sequence alignment	3,836

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17111455	Submitted genomic		NC_000002.12:g.219 159514_219159575de lT	GRCh38 (hg38)		NC_000002.12	Chr2	219,159,514	219,159,575
nssv17111455	Remapped	Perfect	NC_000002.11:g.220 024236_220024297de lT	GRCh37.p13	First Pass	NC_000002.11	Chr2	220,024,236	220,024,297

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