A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14444553



Internal ID22240526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:62893487..62893487hg38UCSC Ensembl
chr15:63185686..63185686hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3556910
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)nssv14444553
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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