A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14575080



Internal ID19707555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56739363..56739363hg38UCSC Ensembl
chr16:56773275..56773275hg19UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3349487
Supporting Variants
SamplesNA19240
Known GenesNUP93
MethodSequencing
AnalysisRead and contig alignments were done with BLASR. The Celera assembler (8.3rc2) was used to assemble RS II samples (CHM1, CHM13, HG00514, HG00733, NA19240, HG02818, NA19434, HG01352, HG02059, NA12878, and HG04217, and Canu (1.7) was used for Sequel samples (HG02106 and HG00268). Variant calling was performed with SMRT-SV (10.1101/gr.214007.116).
PlatformPacBio RS II P6C4, PacBio Sequel v2.1
Comments
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nssv14575080
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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