A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700547



Internal ID15090513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:26380470..26381133hg38UCSC Ensembl
Innerchr12:26533403..26534066hg19UCSC Ensembl
Innerchr12:26424670..26425333hg18UCSC Ensembl
Innerchr12:26424670..26425333hg17UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38664
hg19664
hg18664
hg17664
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524588
Supporting Variants
Samples
Known GenesITPR2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700547
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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