A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3375554



Internal ID19806532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233176549..233176549hg38UCSC Ensembl
chr2:234085195..234085195hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38408
hg19408
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14642664, nssv14644408, nssv14646830, nssv14650026, nssv14650705, nssv14646449, nssv14644218, nssv14633637, nssv14637273, nssv14644042, nssv14640535, nssv14648430, nssv14646827
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733
Known GenesINPP5D
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)nsv3375554
Frequency
Sample Size14
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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