A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202897



Internal ID22351996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230510532..230510670hg38UCSC Ensembl
chr2:231375247..231375385hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14298298, nssv14298301, nssv14298303, nssv14298302, nssv14298299, nssv14298300
SamplesNA19238, NA19239, HG00731, HG00732, HG00733, HG00513
Known GenesSP100
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202897
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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