A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3370275



Internal ID19801254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45414963..45415156hg38UCSC Ensembl
chr2:45642102..45642295hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14624909, nssv14626658, nssv14625668, nssv14613397, nssv14623934, nssv14623545, nssv14614658, nssv14615875, nssv14620530, nssv14620243, nssv14613361, nssv14631474, nssv14619828
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, NA19434, NA19240, HG00733, HG00514
Known GenesSRBD1
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)nsv3370275
Frequency
Sample Size14
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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