A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14406609



Internal ID22302458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236379276..236379357hg38UCSC Ensembl
chr2:237287919..237288000hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3281620
Supporting Variants
SamplesNA19240
Known GenesIQCA1
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)nssv14406609
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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