A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3185315



Internal ID22338604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206071254..206071319hg38UCSC Ensembl
chr2:206935978..206936043hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14294402, nssv14294400, nssv14294403, nssv14294401, nssv14294404
SamplesHG00512, HG00731, HG00733, HG00513, HG00514
Known GenesINO80D
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Commentscomplex variant
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3185315
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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