A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058690



Internal ID18801221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:81213509..81247008hg38UCSC Ensembl
Innerchr16:81247114..81280613hg19UCSC Ensembl
Innerchr16:79804615..79838114hg18UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3833500
hg1933500
hg1833500
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3559837
Samples
Known GenesBCMO1, PKD1L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058690
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