A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3321957



Internal ID19752935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:201690275..201690382hg38UCSC Ensembl
chr1:201659403..201659510hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14483759, nssv14480256
SamplesHG02106, NA12878
Known GenesIPO9-AS1, NAV1
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)nsv3321957
Frequency
Sample Size14
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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