A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3325156



Internal ID19756134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6005351..6005429hg38UCSC Ensembl
chr1:6065411..6065489hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14478749, nssv14475843
SamplesHG02818, HG01352
Known GenesKCNAB2
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)nsv3325156
Frequency
Sample Size14
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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