A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14324966



Internal ID22206271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132196861..132197607hg38UCSC Ensembl
chr5:131532554..131533300hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38747
hg19747
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195530
Supporting Variants
SamplesHG00732
Known GenesP4HA2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14324966
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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