A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14325736



Internal ID22282552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138537921..138538307hg38UCSC Ensembl
chr5:137873610..137873996hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38387
hg19387
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526643
Supporting Variants
SamplesNA19239
Known GenesETF1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14325736
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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