A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517239



Internal ID15444532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:9902228..9932098hg38UCSC Ensembl
Innerchr5:9902340..9932210hg19UCSC Ensembl
Innerchr5:9955340..9985210hg18UCSC Ensembl
Innerchr5:9955340..9985210hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3829871
hg1929871
hg1829871
hg1729871
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv673954, nssv658899, nssv657642, nssv652124, nssv657148, nssv657118, nssv655996, nssv705205, nssv682968, nssv658055, nssv668763, nssv687163, nssv688090, nssv663804, nssv692321, nssv683420, nssv672938, nssv654107, nssv681979, nssv651706, nssv672875, nssv668518, nssv678019, nssv662825, nssv658031, nssv689633, nssv666164, nssv680824, nssv679156, nssv655457, nssv693612, nssv652638, nssv684770, nssv653263
Samples
Known GenesLOC285692
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517239
Frequency
Sample Size2026
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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