A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14323271



Internal ID22260802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122275943..122378127hg38UCSC Ensembl
chr5:121611638..121713822hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38102185
hg19102185
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209512
Supporting Variants
SamplesNA19238
Known GenesSNCAIP
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14323271
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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