A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14462214



Internal ID22229497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:109929060..110396830hg38UCSC Ensembl
chr2:110686637..111154407hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38467771
hg19467771
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206604
Supporting Variants
SamplesHG00733
Known GenesLIMS3-LOC440895, LINC00116, LINC01106, LINC01123, LOC100288570, LOC100507334, LOC440895, MALL, MIR4267, MIR4436B1, MIR4436B2, NPHP1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14462214
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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