A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14406440



Internal ID22310477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73903939..73904249hg38UCSC Ensembl
chr2:74131066..74131376hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195252
Supporting Variants
SamplesNA19240
Known GenesACTG2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14406440
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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