A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3381174



Internal ID19812153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:34442901..34460700hg38UCSC Ensembl
chr4:34444523..34462322hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3817800
hg1917800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14673575
SamplesHG01352
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)nsv3381174
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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