A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3385200



Internal ID19469492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:72117122..72117122hg38UCSC Ensembl
chr5:71412949..71412949hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38351
hg19351
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14696121, nssv14701507
SamplesHG02106, HX1
Known GenesMAP1B
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)nsv3385200
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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