A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1148967



Internal ID15528820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:96219367..96222332hg38UCSC Ensembl
Innerchr14:96685704..96688669hg19UCSC Ensembl
Innerchr14:95755457..95758422hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg382966
hg192966
hg182966
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv565647
Supporting Variants
SamplesHGDP00694
Known GenesBDKRB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1148967
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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