A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517778



Internal ID15098385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:65001948..65861834hg38UCSC Ensembl
Innerchr7:64462326..65326821hg19UCSC Ensembl
Innerchr7:64099761..64964256hg18UCSC Ensembl
Innerchr7:63906476..64770971hg17UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38859887
hg19864496
hg18864496
hg17864496
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv685895, nssv672166, nssv680827, nssv673099, nssv678741, nssv675978, nssv658834, nssv693586, nssv653222, nssv685971, nssv681658, nssv692337, nssv671794, nssv693987, nssv659343, nssv665210
Samples
Known GenesCCT6P1, CCT6P3, ERV3-1, INTS4L2, LOC441242, SNORA22, ZNF92
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517778
Frequency
Sample Size2026
Observed Gain4
Observed Loss12
Observed Complex0
Frequencyn/a


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