A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3324456



Internal ID19755435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:57739455..57739455hg38UCSC Ensembl
chr1:58205127..58205127hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14474146, nssv14483932, nssv14489709
SamplesCHM13, CHM1, NA19240
Known GenesDAB1
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)nsv3324456
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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