A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14432660



Internal ID22175540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237592997..237593126hg38UCSC Ensembl
chr2:238501640..238501769hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3184335
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14432660
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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