A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3396238



Internal ID19480529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:43647111..43647175hg38UCSC Ensembl
chr6:43614848..43614912hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14720888, nssv14731449, nssv14730162
SamplesHG04217, CHM1, HG01352
Known GenesRSPH9
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)nsv3396238
Frequency
Sample Size14
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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