A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545996



Internal ID16333405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:36176128..36184454hg38UCSC Ensembl
Innerchr1:36641729..36650055hg19UCSC Ensembl
Innerchr1:36414316..36422642hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg388327
hg198327
hg188327
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv712325
Samples
Known GenesMAP7D1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545996
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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