A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3325308



Internal ID19756286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:8912226..8912226hg38UCSC Ensembl
chr1:8972285..8972285hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38492
hg19492
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14488139, nssv14486026, nssv14481052
SamplesHG01352, NA19434, HG00733
Known Genes
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)nsv3325308
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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