A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547962



Internal ID15988685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155185938..155188465hg38UCSC Ensembl
Innerchr1:155158414..155160941hg19UCSC Ensembl
Innerchr1:153425038..153427565hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg382528
hg192528
hg182528
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv724905
Samples
Known GenesMUC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547962
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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