A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694005



Internal ID15083971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:39105539..39106158hg38UCSC Ensembl
Innerchr1:39571211..39571830hg19UCSC Ensembl
Innerchr1:39343798..39344417hg18UCSC Ensembl
Innerchr1:39240304..39240923hg17UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38620
hg19620
hg18620
hg17620
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515793
Supporting Variants
Samples
Known GenesMACF1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694005
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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