A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220043



Internal ID22364866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24607496..24632197hg38UCSC Ensembl
chr14:25076702..25101403hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3824702
hg1924702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14370007, nssv14370008, nssv14370005, nssv14370006
SamplesNA19238, HG00731, HG00732, NA19240
Known GenesGZMB, GZMH
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220043
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer