A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3337131



Internal ID19768109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45038594..45038675hg38UCSC Ensembl
chr12:45432377..45432458hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14514749, nssv14513612, nssv14513613, nssv14512650, nssv14526161, nssv14519672, nssv14521931, nssv14521094
SamplesHG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesDBX2
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)nsv3337131
Frequency
Sample Size14
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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