A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546305



Internal ID15987028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:56997653..57350817hg38UCSC Ensembl
Innerchr1:57463326..57816489hg19UCSC Ensembl
Innerchr1:57235914..57589077hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38353165
hg19353164
hg18353164
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv713483
Samples
Known GenesDAB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546305
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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