A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575071



Internal ID16362480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:44218610..44220434hg38UCSC Ensembl
Innerchr17:42295978..42297802hg19UCSC Ensembl
Innerchr17:39651504..39653328hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381825
hg191825
hg181825
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv872164, nssv872163
Samples
Known GenesUBTF
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575071
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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