A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3399833



Internal ID19830810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:84091214..84091214hg38UCSC Ensembl
chr7:83720530..83720530hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14743553, nssv14739115, nssv14747366
SamplesCHM1, HG00268, HX1
Known GenesSEMA3A
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)nsv3399833
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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