A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14297930



Internal ID22306990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237880011..237880116hg38UCSC Ensembl
chr2:238788653..238788758hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195301
Supporting Variants
SamplesNA19240
Known GenesRAMP1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14297930
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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