A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700212



Internal ID15436864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:127759363..127761030hg38UCSC Ensembl
Innerchr12:128243908..128245575hg19UCSC Ensembl
Innerchr12:126809861..126811528hg18UCSC Ensembl
Innerchr12:126768788..126770455hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381668
hg191668
hg181668
hg171668
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524310
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700212
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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