A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248219



Internal ID22376917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:44442775..44449946hg38UCSC Ensembl
chr4:44444792..44451963hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg387172
hg197172
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14313181
SamplesHG00512
Known GenesKCTD8
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248219
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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