A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14448169



Internal ID22243665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:63890591..63890743hg38UCSC Ensembl
chr2:64117725..64117877hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3173723
Supporting Variants
SamplesHG00733
Known GenesUGP2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14448169
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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