A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993434



Internal ID19245629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:52829125..52859641hg38UCSC Ensembl
Outerchr13:53403260..53433776hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3830517
hg1930517
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141930
Supporting Variants
SamplesKWS2
Known GenesPCDH8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993434
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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