A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv727727



Internal ID16021683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:167791494..167797903hg38UCSC Ensembl
Innerchr1:167760731..167767140hg19UCSC Ensembl
Innerchr1:166027355..166033764hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg386410
hg196410
hg186410
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548100
Supporting Variants
Samples
Known GenesMPZL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv727727
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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