A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3386894



Internal ID19817872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:30739122..30739122hg38UCSC Ensembl
chr4:30740744..30740744hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14680617
SamplesHG00268
Known GenesPCDH7
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)nsv3386894
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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