A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575989



Internal ID16016712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:73826016..74685802hg38UCSC Ensembl
Innerchr17:71822155..72681941hg19UCSC Ensembl
Innerchr17:69333750..70193536hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38859787
hg19859787
hg18859787
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5768n54
Supporting Variantsnssv1149804
SamplesNINDS_116
Known GenesBTBD17, C17orf77, CD300A, CD300C, CD300E, CD300LB, CD300LD, DNAI2, GPR142, GPRC5C, KIF19, LINC00469, MGC16275, RAB37, RPL38, TTYH2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575989
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer