A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517187



Internal ID15444480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:36452369..36460360hg38UCSC Ensembl
Innerchr5:36452471..36460462hg19UCSC Ensembl
Innerchr5:36488228..36496219hg18UCSC Ensembl
Innerchr5:36488228..36496219hg17UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg387992
hg197992
hg187992
hg177992
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv692736, nssv673953, nssv653962, nssv671029, nssv668494
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517187
Frequency
Sample Size2026
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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