A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv693280



Internal ID15083246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:75347103..75359463hg38UCSC Ensembl
Innerchr12:75740883..75753243hg19UCSC Ensembl
Innerchr12:74027150..74039510hg18UCSC Ensembl
Innerchr12:74027150..74039510hg17UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3812361
hg1912361
hg1812361
hg1712361
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520316
Supporting Variants
Samples
Known GenesCAPS2, GLIPR1L1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv693280
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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