A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1149346



Internal ID15875254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:285519..368354hg38UCSC Ensembl
Innerchr17:135310..218145hg19UCSC Ensembl
Innerchr17:135310..218145hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3882836
hg1982836
hg1882836
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv573954
Supporting Variants
SamplesHGDP00656
Known GenesLOC100506388, RPH3AL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1149346
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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