A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521031



Internal ID15448324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:46921577..46936011hg38UCSC Ensembl
Innerchr6:46889314..46903748hg19UCSC Ensembl
Innerchr6:46997273..47011707hg18UCSC Ensembl
Innerchr6:46997273..47011707hg17UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3814435
hg1914435
hg1814435
hg1714435
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697744
Samples
Known GenesGPR116
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521031
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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