A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14297931



Internal ID22125745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237890252..237891201hg38UCSC Ensembl
chr2:238798894..238799843hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38950
hg19950
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196422
Supporting Variants
SamplesHG00512
Known GenesRAMP1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14297931
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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