A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3323724



Internal ID19754703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2602165..2602165hg38UCSC Ensembl
chr1:2533604..2533604hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14477000, nssv14479462, nssv14472541, nssv14486135, nssv14475412, nssv14472858, nssv14478962, nssv14491686
SamplesHG02106, HG04217, HG00268, HG02818, HG02059, NA19434, NA19240, HG00733
Known GenesMMEL1
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)nsv3323724
Frequency
Sample Size14
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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