A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526294



Internal ID15453587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:56103796..56554937hg38UCSC Ensembl
Innerchr7:56171489..56622630hg19UCSC Ensembl
Innerchr7:56138983..56590124hg18UCSC Ensembl
Innerchr7:55945698..56396839hg17UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38451142
hg19451142
hg18451142
hg17451142
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv702575
Samples
Known GenesCHCHD2, DKFZp434L192, LOC100240728, LOC101928401, LOC650226, NUPR1L
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526294
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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