A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271960



Internal ID22253277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:159228570..159240009hg38UCSC Ensembl
Outerchr3:158946359..158957798hg19UCSC Ensembl
Cytoband3q25.32
Allele length
AssemblyAllele length
hg38682
hg19682
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213507
Supporting Variants
SamplesNA19238
Known GenesIQCJ, IQCJ-SCHIP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271960
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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