A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3337240



Internal ID19768218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6227190..6227190hg38UCSC Ensembl
chr12:6336356..6336356hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14519376
SamplesNA19240
Known GenesCD9
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)nsv3337240
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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