A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv709143



Internal ID15656413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6104348..6108362hg38UCSC Ensembl
Innerchr1:6164408..6168422hg19UCSC Ensembl
Innerchr1:6086995..6091009hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg384015
hg194015
hg184015
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545232
Supporting Variants
Samples
Known GenesCHD5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv709143
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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