A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14325007



Internal ID22124867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134127035..134128127hg38UCSC Ensembl
chr5:133462726..133463818hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg381093
hg191093
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525341
Supporting Variants
SamplesHG00512
Known GenesTCF7
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14325007
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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