A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015322



Internal ID19104539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:39966596..40101596hg38UCSC Ensembl
Innerchr7:40006195..40141195hg19UCSC Ensembl
Innerchr7:39972720..40107720hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38135001
hg19135001
hg18135001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3643870
Samples
Known GenesCDK13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1015322
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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