A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523964



Internal ID15104571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27008196..27009343hg38UCSC Ensembl
Innerchr12:27161129..27162276hg19UCSC Ensembl
Innerchr12:27052396..27053543hg18UCSC Ensembl
Innerchr12:27052396..27053543hg17UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg381148
hg191148
hg181148
hg171148
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699814
Samples
Known GenesTM7SF3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523964
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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