A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575100



Internal ID16015823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:44672587..44682986hg38UCSC Ensembl
Innerchr17:42749955..42760354hg19UCSC Ensembl
Innerchr17:40105481..40115880hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3810400
hg1910400
hg1810400
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv872238
Samples
Known GenesC17orf104, CCDC43
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575100
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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