A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv971517



Internal ID15918787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:112266260..113293950hg38UCSC Ensembl
Innerchr3:111985107..113012797hg19UCSC Ensembl
Innerchr3:113467797..114495487hg18UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg381027691
hg191027691
hg181027691
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv591293
Supporting Variants
Samples
Known GenesATG3, BOC, BTLA, C3orf17, CCDC80, CD200, CD200R1, CD200R1L, GTPBP8, SLC35A5, SLC9C1, WDR52
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv971517
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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