A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704619



Internal ID15094585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:160142281..160158555hg38UCSC Ensembl
Innerchr2:160998792..161015066hg19UCSC Ensembl
Innerchr2:160707038..160723312hg18UCSC Ensembl
Innerchr2:160824299..160840573hg17UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3816275
hg1916275
hg1816275
hg1716275
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528083
Supporting Variants
Samples
Known GenesITGB6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704619
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer