A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519188



Internal ID15099795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:32619643..32780839hg38UCSC Ensembl
Innerchr1:33085244..33246440hg19UCSC Ensembl
Innerchr1:32857831..33019027hg18UCSC Ensembl
Innerchr1:32754337..32915533hg17UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg38161197
hg19161197
hg18161197
hg17161197
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696672
Samples
Known GenesKIAA1522, RBBP4, SYNC, YARS, ZBTB8OS
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519188
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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