A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3325413



Internal ID19756391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56776936..56777274hg38UCSC Ensembl
chr1:57242609..57242947hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14486774, nssv14489734, nssv14478061, nssv14478848, nssv14480770, nssv14475356, nssv14484812, nssv14481351, nssv14485980, nssv14487366, nssv14480844, nssv14479613, nssv14482761, nssv14492030
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesC1orf168
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
CommentsAbsence of a Alu insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3325413
Frequency
Sample Size14
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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