A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3350603



Internal ID19781581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41046880..41065457hg38UCSC Ensembl
chr17:39203132..39221709hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3818578
hg1918578
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14579365
SamplesNA19434
Known GenesKRTAP2-1, KRTAP2-2, KRTAP2-3, KRTAP2-4
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)nsv3350603
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer