A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv676412



Internal ID15413064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:25481241..25483086hg38UCSC Ensembl
Innerchr12:25634175..25636020hg19UCSC Ensembl
Innerchr12:25525442..25527287hg18UCSC Ensembl
Innerchr12:25525442..25527287hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg381846
hg191846
hg181846
hg171846
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520540
Supporting Variants
Samples
Known GenesIFLTD1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv676412
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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