A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14447545



Internal ID22243124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42044174..42044174hg38UCSC Ensembl
chr2:42271314..42271314hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3534397
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14447545
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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