A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3981264



Internal ID18873507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:32586863..32587163hg38UCSC Ensembl
Outerchr13:33161000..33161300hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143587
Supporting Variants
SamplesKWS1
Known GenesPDS5B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3981264
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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