A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192431



Internal ID22343018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:234170632..234170767hg38UCSC Ensembl
chr2:235079276..235079411hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14297159, nssv14297158
SamplesNA19239, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192431
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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