A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3413657



Internal ID19844634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137145034..137145204hg38UCSC Ensembl
chr9:140039486..140039656hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14782987, nssv14785629, nssv14776880, nssv14773888, nssv14784570
SamplesHG00268, HG02818, HG02059, HG01352, HG00733
Known GenesGRIN1
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)nsv3413657
Frequency
Sample Size14
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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