A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14391860



Internal ID22183284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:20136371..20144203hg38UCSC Ensembl
chr17:20039684..20047516hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg387833
hg197833
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221469
Supporting Variants
SamplesHG00514
Known GenesSPECC1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14391860
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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