A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698704



Internal ID15088670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127068392..127076560hg38UCSC Ensembl
Innerchr2:127825968..127834136hg19UCSC Ensembl
Innerchr2:127542438..127550606hg18UCSC Ensembl
Innerchr2:127542198..127550366hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg388169
hg198169
hg188169
hg178169
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516759
Supporting Variants
Samples
Known GenesBIN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv698704
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