A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518971



Internal ID15099578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13479571..13489669hg38UCSC Ensembl
Innerchr1:13806039..13816121hg19UCSC Ensembl
Innerchr1:13678626..13688708hg18UCSC Ensembl
Innerchr1:13551345..13561427hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3810099
hg1910083
hg1810083
hg1710083
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696439
Samples
Known GenesLRRC38
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518971
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