A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522940



Internal ID15103547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:39552552..39604342hg38UCSC Ensembl
Innerchr12:39946354..39998144hg19UCSC Ensembl
Innerchr12:38232621..38284411hg18UCSC Ensembl
Innerchr12:38232621..38284411hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3851791
hg1951791
hg1851791
hg1751791
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698603
Samples
Known GenesABCD2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522940
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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