A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14729059



Internal ID19384578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:70575830..70575830hg38UCSC Ensembl
chr6:71285533..71285533hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg381263
hg191263
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3396289
Supporting Variants
SamplesNA19434
Known GenesC6orf57
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)nssv14729059
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer