A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545031



Internal ID15985754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1696548..1754601hg38UCSC Ensembl
Innerchr1:1627987..1686040hg19UCSC Ensembl
Innerchr1:1617847..1675900hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3858054
hg1958054
hg1858054
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv708620
Samples
Known GenesCDK11A, CDK11B, MMP23A, NADK, SLC35E2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545031
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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