A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704891



Internal ID15094857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:130955268..130958036hg38UCSC Ensembl
Innerchr12:131439813..131442581hg19UCSC Ensembl
Innerchr12:130005766..130008534hg18UCSC Ensembl
Innerchr12:129964693..129967461hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg382769
hg192769
hg182769
hg172769
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519628
Supporting Variants
Samples
Known GenesGPR133
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704891
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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