A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528069



Internal ID15455362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:17981272..18011576hg38UCSC Ensembl
Innerchr2:18162538..18192842hg19UCSC Ensembl
Innerchr2:18026019..18056323hg18UCSC Ensembl
Innerchr2:18084166..18114470hg17UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3830305
hg1930305
hg1830305
hg1730305
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704605
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528069
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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