A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3966741



Internal ID19234780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:30464263..30465663hg38UCSC Ensembl
Outerchr13:31038400..31039800hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg381401
hg191401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1112631
Supporting Variants
SamplesKWS2
Known GenesHMGB1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3966741
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