A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv653448



Internal ID15043414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99608243..99614995hg38UCSC Ensembl
Innerchr12:100002021..100008773hg19UCSC Ensembl
Innerchr12:98526152..98532904hg18UCSC Ensembl
Innerchr12:98504489..98511241hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg386753
hg196753
hg186753
hg176753
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517202
Supporting Variants
Samples
Known GenesANKS1B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv653448
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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