A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548190



Internal ID16335599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:171490368..171575912hg38UCSC Ensembl
Innerchr1:171459507..171545051hg19UCSC Ensembl
Innerchr1:169726131..169811675hg18UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg3885545
hg1985545
hg1885545
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173348
Samples1780862355_A
Known GenesPRRC2C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548190
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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