A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517373



Internal ID15444666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:74887244..74887406hg38UCSC Ensembl
Innerchr9:77502160..77502322hg19UCSC Ensembl
Innerchr9:76691980..76692142hg18UCSC Ensembl
Innerchr9:74731714..74731876hg17UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38163
hg19163
hg18163
hg17163
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv651839, nssv658569, nssv665405, nssv678483, nssv656906, nssv674763, nssv682276, nssv667304, nssv682506
Samples
Known GenesTRPM6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517373
Frequency
Sample Size2026
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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