A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3965808



Internal ID19236144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:137686873..137688197hg38UCSC Ensembl
Outerchr5:137022562..137023886hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg381325
hg191325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1112112
Supporting Variants
SamplesKWS2
Known GenesKLHL3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3965808
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