A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063764



Internal ID18806295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:16268335..16759600hg38UCSC Ensembl
Innerchr17:16171649..16662914hg19UCSC Ensembl
Innerchr17:16112374..16603639hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38491266
hg19491266
hg18491266
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3719936
Samples
Known GenesCCDC144A, CENPV, FAM211A, FAM211A-AS1, MIR1288, PIGL, SNORD49A, SNORD49B, SNORD65, TRPV2, UBB, ZNF287, ZNF624
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063764
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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