A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548187



Internal ID15988910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169561599..169589797hg38UCSC Ensembl
Innerchr1:169530837..169559035hg19UCSC Ensembl
Innerchr1:167797461..167825659hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3828199
hg1928199
hg1828199
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv728814
Samples
Known GenesF5, SELP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548187
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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