A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523293



Internal ID15450586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:187909954..188063706hg38UCSC Ensembl
Innerchr2:188774681..188928433hg19UCSC Ensembl
Innerchr2:188482926..188636678hg18UCSC Ensembl
Innerchr2:188600187..188753939hg17UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38153753
hg19153753
hg18153753
hg17153753
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699033
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523293
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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