A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3413812



Internal ID19844789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:105380592..105380695hg38UCSC Ensembl
chr8:106392820..106392923hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14782632, nssv14783935, nssv14791073
SamplesNA12878, HG01352, NA19240
Known GenesZFPM2
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)nsv3413812
Frequency
Sample Size14
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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