A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697753



Internal ID15434405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:128895878..128904432hg38UCSC Ensembl
Innerchr12:129380423..129388977hg19UCSC Ensembl
Innerchr12:127946376..127954930hg18UCSC Ensembl
Innerchr12:127905303..127913857hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg388555
hg198555
hg188555
hg178555
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521048
Supporting Variants
Samples
Known GenesGLT1D1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697753
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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