A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574269



Internal ID16014992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4412211..4554285hg38UCSC Ensembl
Innerchr17:4315506..4457580hg19UCSC Ensembl
Innerchr17:4262255..4404329hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38142075
hg19142075
hg18142075
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv866557
Samples
Known GenesMYBBP1A, SPNS2, SPNS3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574269
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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