A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606517



Internal ID16047240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:30914502..30916451hg38UCSC Ensembl
Innerchr7:30954117..30956066hg19UCSC Ensembl
Innerchr7:30920642..30922591hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg381950
hg191950
hg181950
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11255n54
Supporting Variantsnssv1081794
Samples
Known GenesAQP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606517
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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