A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705445



Internal ID15442097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:14690901..14732704hg38UCSC Ensembl
Innerchr12:14843835..14885638hg19UCSC Ensembl
Innerchr12:14735102..14776905hg18UCSC Ensembl
Innerchr12:14735102..14776905hg17UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3841804
hg1941804
hg1841804
hg1741804
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528779
Supporting Variants
Samples
Known GenesGUCY2C
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705445
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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