A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv736812



Internal ID16030768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210549210..210554171hg38UCSC Ensembl
Innerchr1:210722554..210727515hg19UCSC Ensembl
Innerchr1:208789177..208794138hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg384962
hg194962
hg184962
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv549117
Supporting Variants
Samples
Known GenesHHAT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv736812
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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