A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14408358



Internal ID22320754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172315250..172321374hg38UCSC Ensembl
chr2:173179978..173186102hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg386125
hg196125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3280394
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14408358
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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