A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv728690



Internal ID16022646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169262304..169269949hg38UCSC Ensembl
Innerchr1:169231542..169239187hg19UCSC Ensembl
Innerchr1:167498166..167505811hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg387646
hg197646
hg187646
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548164
Supporting Variants
Samples
Known GenesNME7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv728690
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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