A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581164



Internal ID16368573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:20224447..20225404hg38UCSC Ensembl
Innerchr2:20424208..20425165hg19UCSC Ensembl
Innerchr2:20287689..20288646hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38958
hg19958
hg18958
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv904426
Samples
Known GenesSDC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581164
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