A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281767



Internal ID22325681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75095746..75096621hg38UCSC Ensembl
chr17:73091841..73092716hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38876
hg19876
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3529497
Supporting Variants
SamplesNA19240
Known GenesSLC16A5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281767
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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