A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3402951



Internal ID19833928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:16197509..16198725hg38UCSC Ensembl
chr7:16237134..16238350hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg381217
hg191217
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14737838, nssv14745306, nssv14749360
SamplesCHM13, HG02818, HG02059
Known GenesISPD
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)nsv3402951
Frequency
Sample Size14
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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