A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516592



Internal ID15443885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:92635679..92650049hg38UCSC Ensembl
Innerchr7:92264993..92279363hg19UCSC Ensembl
Innerchr7:92102929..92117299hg18UCSC Ensembl
Innerchr7:91909644..91924014hg17UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg3814371
hg1914371
hg1814371
hg1714371
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705410, nssv662501, nssv669443
Samples
Known GenesCDK6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516592
Frequency
Sample Size2026
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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