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

dbVar

Database of genomic structural variation

nsv5666116

Organism: Homo sapiens

Study:nstd207 (Ebert et al. 2021)
Variant Type:inversion
Method Type:Optical mapping, Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:28,955

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: 367 SVs from 68 studies. See in: genome view

Submitted genomic123,999,914-124,038,960

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5666116	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	124,001,196 (-1282, +1282)	124,030,150 (-8810, +8810)
nsv5666116	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	124,922,351 (-1282, +1282)	124,951,305 (-8810, +8810)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17129627	inversion	Optical mapping, Sequencing	Optical mapping, Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17129627	Submitted genomic		NC_000004.12:g.(12 3999914_124002478) _(124021340_124038 960)inv	GRCh38 (hg38)		NC_000004.12	Chr4	124,001,196 (-1282, +1282)	124,030,150 (-8810, +8810)
nssv17129627	Remapped	Perfect	NC_000004.11:g.(12 4921069_124923633) _(124942495_124960 115)inv	GRCh37.p13	First Pass	NC_000004.11	Chr4	124,922,351 (-1282, +1282)	124,951,305 (-8810, +8810)

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