A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524192



Internal ID15104799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:122763367..123578468hg38UCSC Ensembl
Innerchr7:122403421..123218522hg19UCSC Ensembl
Innerchr7:122190657..123005758hg18UCSC Ensembl
Innerchr7:121997372..122812473hg17UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg38815102
hg19815102
hg18815102
hg17815102
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700075
Samples
Known GenesCADPS2, IQUB, NDUFA5, SLC13A1, TAS2R16
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524192
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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