A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574275



Internal ID16014998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4875192..4946479hg38UCSC Ensembl
Innerchr17:4778487..4849774hg19UCSC Ensembl
Innerchr17:4724664..4790519hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3871288
hg1971288
hg1865856
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149680
Samples1780862339_A
Known GenesC17orf107, CHRNE, GP1BA, MINK1, PFN1, RNF167, SLC25A11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574275
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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