A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264380



Internal ID22219951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:109929060..110398674hg38UCSC Ensembl
Outerchr2:110686637..111156251hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38469615
hg19469615
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210360
Supporting Variants
SamplesHG00733
Known GenesLIMS3-LOC440895, LINC00116, LINC01106, LINC01123, LOC100288570, LOC100507334, LOC440895, MALL, MIR4267, MIR4436B1, MIR4436B2, NPHP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264380
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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