A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv687835



Internal ID15077801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12659200..12663173hg38UCSC Ensembl
Innerchr1:12719211..12723184hg19UCSC Ensembl
Innerchr1:12641798..12645771hg18UCSC Ensembl
Innerchr1:12653477..12657450hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg383974
hg193974
hg183974
hg173974
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515525
Supporting Variants
Samples
Known GenesAADACL4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv687835
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