A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978642



Internal ID18882503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:70231464..70470163hg38UCSC Ensembl
Outerchr14:70698181..70936880hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38238700
hg19238700
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1116461
Supporting Variants
SamplesKWS2
Known GenesADAM20P1, ADAM21, ADAM21P1, COX16, SYNJ2BP, SYNJ2BP-COX16
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978642
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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