A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281798



Internal ID22127363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76070223..76073494hg38UCSC Ensembl
chr17:74066304..74069575hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg383272
hg193272
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225846
Supporting Variants
SamplesHG00512
Known GenesSRP68
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281798
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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