A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14421911



Internal ID22160217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240623625..240623625hg38UCSC Ensembl
chr2:241563042..241563042hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381789
hg191789
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3532964
Supporting Variants
SamplesHG00514
Known GenesGPR35
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14421911
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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