A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527878



Internal ID15108485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:46183374..46194623hg38UCSC Ensembl
Innerchr1:46649046..46660295hg19UCSC Ensembl
Innerchr1:46421633..46432882hg18UCSC Ensembl
Innerchr1:46361066..46372315hg17UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3811250
hg1911250
hg1811250
hg1711250
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704379
Samples
Known GenesPOMGNT1, TSPAN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527878
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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