A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606707



Internal ID16047430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:39981445..40093445hg38UCSC Ensembl
Innerchr7:40021044..40133044hg19UCSC Ensembl
Innerchr7:39987569..40099569hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38112001
hg19112001
hg18112001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11289n54
Supporting Variantsnssv1083044
Samples
Known GenesCDK13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606707
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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