A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574693



Internal ID16015416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:32220518..32300645hg38UCSC Ensembl
Innerchr17:30547537..30627664hg19UCSC Ensembl
Innerchr17:27571650..27651777hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3880128
hg1980128
hg1880128
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv869603
Samples
Known GenesRHBDL3, RHOT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574693
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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