A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517394



Internal ID15444687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:111229376..111725687hg38UCSC Ensembl
Innerchr7:110869432..111365743hg19UCSC Ensembl
Innerchr7:110656668..111152979hg18UCSC Ensembl
Innerchr7:110463383..110959694hg17UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38496312
hg19496312
hg18496312
hg17496312
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv428n21
Supporting Variantsnssv667695, nssv699089, nssv660698, nssv694584, nssv697300, nssv703697, nssv693709, nssv671311, nssv659489, nssv657263, nssv668887, nssv675954, nssv675974, nssv697631, nssv696073, nssv661503, nssv699980, nssv700298, nssv691686, nssv687195, nssv704456, nssv702169, nssv671578, nssv664745, nssv695305, nssv674132, nssv681614, nssv665242, nssv651894, nssv658903, nssv652565, nssv672718, nssv668443, nssv678829, nssv674106, nssv681320, nssv699398, nssv686056
Samples
Known GenesIMMP2L
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517394
Frequency
Sample Size2026
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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