A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545077



Internal ID15985800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:2428542..2622185hg38UCSC Ensembl
Innerchr1:2359981..2553624hg19UCSC Ensembl
Innerchr1:2349841..2543484hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38193644
hg19193644
hg18193644
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv708747
Samples
Known GenesFAM213B, HES5, LOC100133445, LOC115110, MMEL1, PANK4, PLCH2, TNFRSF14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545077
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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