A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3371909



Internal ID19802887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:36505309..36505562hg38UCSC Ensembl
chr2:36732452..36732705hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14618137, nssv14615962, nssv14617885, nssv14618885, nssv14627651, nssv14631909, nssv14625568, nssv14617823, nssv14629535
SamplesHG02106, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240
Known GenesCRIM1
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)nsv3371909
Frequency
Sample Size14
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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