A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548572



Internal ID16335981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:190706406..190804699hg38UCSC Ensembl
Innerchr1:190675536..190773829hg19UCSC Ensembl
Innerchr1:188942159..189040452hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3898294
hg1998294
hg1898294
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv699n54
Supporting Variantsnssv732587
Samples
Known GenesLOC440704
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548572
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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