A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574278



Internal ID16015001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:5546345..6722066hg38UCSC Ensembl
Innerchr17:5449665..6625385hg19UCSC Ensembl
Innerchr17:5390389..6566109hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381175722
hg191175721
hg181175721
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv866565
Samples
Known GenesAIPL1, ALOX15P1, C17orf100, FAM64A, KIAA0753, LOC339166, MED31, MIR4520A, MIR4520B, NLRP1, PITPNM3, SLC13A5, TXNDC17, WSCD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574278
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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