A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1083045



Internal ID15589545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:39981445..40117441hg38UCSC Ensembl
Innerchr7:40021044..40157040hg19UCSC Ensembl
Innerchr7:39987569..40123565hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38135997
hg19135997
hg18135997
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv606708
Supporting Variants
Samples
Known GenesCDK13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1083045
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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