A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998804



Internal ID19158340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:242117701..242328060hg38UCSC Ensembl
Innerchr1:242281003..242491362hg19UCSC Ensembl
Innerchr1:240347626..240557985hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38210360
hg19210360
hg18210360
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3499453
Samples
Known GenesPLD5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998804
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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