A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705079



Internal ID15095045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29731620..29742602hg38UCSC Ensembl
Innerchr12:29884553..29895535hg19UCSC Ensembl
Innerchr12:29775820..29786802hg18UCSC Ensembl
Innerchr12:29775820..29786802hg17UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3810983
hg1910983
hg1810983
hg1710983
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528476
Supporting Variants
Samples
Known GenesTMTC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705079
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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