A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14386328



Internal ID22196313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7915748..7918602hg38UCSC Ensembl
chr17:7819066..7821920hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg382855
hg192855
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216784
Supporting Variants
SamplesHG00731
Known GenesLOC284023
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14386328
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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