A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv712143



Internal ID15659413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:31626924..31699894hg38UCSC Ensembl
Innerchr1:32092525..32165495hg19UCSC Ensembl
Innerchr1:31865112..31938082hg18UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg3872971
hg1972971
hg1872971
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545951
Supporting Variants
Samples
Known GenesCOL16A1, HCRTR1, PEF1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv712143
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