A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047581



Internal ID19136800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:20700184..20748681hg38UCSC Ensembl
Innerchr16:20711506..20760003hg19UCSC Ensembl
Innerchr16:20619007..20667504hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg3848498
hg1948498
hg1848498
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3548050
Samples
Known GenesTHUMPD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047581
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