A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575991



Internal ID16016714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:73837862..74652981hg38UCSC Ensembl
Innerchr17:71834001..72649120hg19UCSC Ensembl
Innerchr17:69345596..70160715hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38815120
hg19815120
hg18815120
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5768n54
Supporting Variantsnssv876060
Samples
Known GenesBTBD17, C17orf77, CD300A, CD300C, CD300E, CD300LB, CD300LD, DNAI2, GPR142, GPRC5C, KIF19, MGC16275, RPL38, TTYH2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575991
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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