A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3983552



Internal ID18884294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:48117446..48117510hg38UCSC Ensembl
Outerchr19:48620703..48620767hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125377
Supporting Variants
SamplesKWS2
Known GenesLIG1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3983552
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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