A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608401



Internal ID16049124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:128443400..128468722hg38UCSC Ensembl
Innerchr7:128083454..128108776hg19UCSC Ensembl
Innerchr7:127870690..127896012hg18UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg3825323
hg1925323
hg1825323
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1094500
Samples
Known GenesHILPDA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608401
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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