A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14395761



Internal ID22311653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41278201..41278840hg38UCSC Ensembl
chr1:41743873..41744512hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38640
hg19640
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3282569
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)nssv14395761
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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