A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545993



Internal ID16333402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:36126011..36187018hg38UCSC Ensembl
Innerchr1:36591612..36652619hg19UCSC Ensembl
Innerchr1:36364199..36425206hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3861008
hg1961008
hg1861008
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv712320
Samples
Known GenesMAP7D1, TRAPPC3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545993
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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