A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14324509



Internal ID22281747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172893874..172893938hg38UCSC Ensembl
chr5:172320877..172320941hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526262
Supporting Variants
SamplesNA19239
Known GenesERGIC1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14324509
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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