A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3324740



Internal ID19409033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:67709906..67710059hg38UCSC Ensembl
chr1:68175589..68175742hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14481056, nssv14472766, nssv14483963, nssv14489248, nssv14491089, nssv14477643, nssv14488258, nssv14491211
SamplesHG02106, CHM1, HG02818, HX1, HG02059, HG01352, NA19434, HG00733
Known GenesGNG12
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)nsv3324740
Frequency
Sample Size14
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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