A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516544



Internal ID15097151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:30678143..30703370hg38UCSC Ensembl
Innerchr8:30535660..30560887hg19UCSC Ensembl
Innerchr8:30655202..30680429hg18UCSC Ensembl
Innerchr8:30655202..30680429hg17UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3825228
hg1925228
hg1825228
hg1725228
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv663202, nssv661356, nssv669045, nssv654368, nssv662239, nssv663063, nssv679571
Samples
Known GenesGSR
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516544
Frequency
Sample Size2026
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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