A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14760014



Internal ID19702764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:126637854..126637854hg38UCSC Ensembl
chr7:126277908..126277908hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg386730
hg196730
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3406853
Supporting Variants
SamplesNA19240
Known GenesGRM8
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)nssv14760014
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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