A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3563838



Internal ID22432574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148209954..148209954hg38UCSC Ensembl
chr5:147589517..147589517hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14323631, nssv14323632
SamplesNA19240, HG00733
Known GenesSPINK6
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3563838
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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