A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576032



Internal ID16016755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:75591703..75631459hg38UCSC Ensembl
Innerchr17:73587784..73627539hg19UCSC Ensembl
Innerchr17:71099379..71139134hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3839757
hg1939756
hg1839756
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv876108
Samples
Known GenesMYO15B, RECQL5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576032
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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