A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548571



Internal ID16335980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:190706406..190800664hg38UCSC Ensembl
Innerchr1:190675536..190769794hg19UCSC Ensembl
Innerchr1:188942159..189036417hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3894259
hg1994259
hg1894259
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv699n54
Supporting Variantsnssv1173973
Samples1780862202_A
Known GenesLOC440704
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548571
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer