A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3325224



Internal ID19409516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:77887914..77887973hg38UCSC Ensembl
chr1:78353599..78353658hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14480006, nssv14480410, nssv14480137, nssv14479489, nssv14479199, nssv14490045, nssv14487198, nssv14474446, nssv14479039, nssv14482572
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, NA19434, NA19240, HG00733, HG00514
Known GenesNEXN-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)nsv3325224
Frequency
Sample Size14
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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