A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575073



Internal ID16362482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:44218610..44221066hg38UCSC Ensembl
Innerchr17:42295978..42298434hg19UCSC Ensembl
Innerchr17:39651504..39653960hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg382457
hg192457
hg182457
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5602n54
Supporting Variantsnssv872175, nssv872173, nssv872177, nssv872174, nssv872172, nssv872178, nssv872176
Samples
Known GenesUBTF
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575073
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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