A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195098



Internal ID22345322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85610671..85611052hg38UCSC Ensembl
chr2:85837794..85838175hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38382
hg19382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14293910, nssv14293909, nssv14293908, nssv14293912, nssv14293911
SamplesNA19238, NA19239, HG00732, HG00733, HG00514
Known GenesC2orf68, USP39
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195098
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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