A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002014



Internal ID18744545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:207223904..207359600hg38UCSC Ensembl
Innerchr1:207397249..207532945hg19UCSC Ensembl
Innerchr1:205463872..205599568hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38135697
hg19135697
hg18135697
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3483280
Samples
Known GenesCD55
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002014
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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