A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978621



Internal ID19232948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:239952709..239953383hg38UCSC Ensembl
Outerchr1:240116009..240116683hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38675
hg19675
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125289
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978621
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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