A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056005



Internal ID18798536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:82954267..83021815hg38UCSC Ensembl
Innerchr16:82987872..83055420hg19UCSC Ensembl
Innerchr16:81545373..81612921hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3867549
hg1967549
hg1867549
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3052n100
Supporting Variantsnssv3719089
Samples
Known GenesCDH13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056005
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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