A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14489789



Internal ID19452141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16721801..16798600hg38UCSC Ensembl
chr1:17048296..17125095hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3876800
hg1976800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3320914
Supporting Variants
SamplesHG00268
Known GenesLOC729574, MST1L
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)nssv14489789
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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