A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545082



Internal ID15985805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:2536231..2597243hg38UCSC Ensembl
Innerchr1:2467670..2528682hg19UCSC Ensembl
Innerchr1:2457530..2518542hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3861013
hg1961013
hg1861013
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv708750
Samples
Known GenesFAM213B, LOC100133445, LOC115110, MMEL1, TNFRSF14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545082
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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