A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519090



Internal ID15099697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:70620948..71606911hg38UCSC Ensembl
Innerchr7:70085934..71071896hg19UCSC Ensembl
Innerchr7:69723870..70709832hg18UCSC Ensembl
Innerchr7:69530585..70516547hg17UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38985964
hg19985963
hg18985963
hg17985963
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696563
Samples
Known GenesAUTS2, MIR3914-1, MIR3914-2, WBSCR17
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519090
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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