A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195252



Internal ID22345464
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 StatusM
Merged Variantsdgv4629n152
Supporting Variantsnssv14406440
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)nsv3195252
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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