A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv713485



Internal ID16007441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:58241439..58267378hg38UCSC Ensembl
Innerchr1:58707111..58733050hg19UCSC Ensembl
Innerchr1:58479699..58505638hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg3825940
hg1925940
hg1825940
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546307
Supporting Variants
Samples
Known GenesDAB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv713485
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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