A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515793



Internal ID15096400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:39105539..39112860hg38UCSC Ensembl
Innerchr1:39571211..39578532hg19UCSC Ensembl
Innerchr1:39343798..39351119hg18UCSC Ensembl
Innerchr1:39240304..39247625hg17UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg387322
hg197322
hg187322
hg177322
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv657487, nssv664813, nssv678265, nssv693049, nssv692912, nssv694005
Samples
Known GenesMACF1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515793
Frequency
Sample Size2026
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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