A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14313181



Internal ID22116869
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248219
Supporting Variants
SamplesHG00512
Known GenesKCTD8
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14313181
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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