A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519780



Internal ID15447073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:117437210..117486979hg38UCSC Ensembl
Innerchr1:117979832..118029601hg19UCSC Ensembl
Innerchr1:117781355..117831124hg18UCSC Ensembl
Innerchr1:117691874..117741643hg17UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3849770
hg1949770
hg1849770
hg1749770
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv658550, nssv660982
Samples
Known GenesMAN1A2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519780
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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