A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695215



Internal ID15431867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:129090885..129165626hg38UCSC Ensembl
Innerchr12:129575430..129650171hg19UCSC Ensembl
Innerchr12:128141383..128216124hg18UCSC Ensembl
Innerchr12:128100310..128175051hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3874742
hg1974742
hg1874742
hg1774742
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517810
Supporting Variants
Samples
Known GenesLOC283352, TMEM132D
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695215
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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