A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3417242



Internal ID19848217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:76644959..76645014hg38UCSC Ensembl
chr8:77557194..77557249hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14762580, nssv14765634, nssv14752631, nssv14768298, nssv14763291, nssv14757269, nssv14758517, nssv14761433
SamplesCHM1, HG00268, HG02818, HG02059, HG01352, NA19434, NA19240, HG00733
Known GenesZFHX4-AS1
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)nsv3417242
Frequency
Sample Size14
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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