A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548191



Internal ID16335600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:171609392..171643127hg38UCSC Ensembl
Innerchr1:171578532..171612267hg19UCSC Ensembl
Innerchr1:169845155..169878890hg18UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg3833736
hg1933736
hg1833736
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv728816
Samples
Known GenesMYOC
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548191
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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