A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14407472



Internal ID22303660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9406003..9406121hg38UCSC Ensembl
chr2:9546132..9546250hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3280992
Supporting Variants
SamplesNA19240
Known GenesITGB1BP1
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)nssv14407472
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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