A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14432974



Internal ID22175870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:24251373..24251473hg38UCSC Ensembl
chr2:24474242..24474342hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3280446
Supporting Variants
SamplesHG00514
Known GenesITSN2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14432974
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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