A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3394694



Internal ID19825671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:185222022..185222100hg38UCSC Ensembl
chr4:186143176..186143254hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14708411, nssv14711254, nssv14703066, nssv14710735, nssv14711741, nssv14696531, nssv14693907, nssv14695594, nssv14707955, nssv14706432
SamplesCHM13, CHM1, NA12878, HG02818, HX1, HG02059, HG01352, NA19240, HG00733, HG00514
Known GenesSNX25
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)nsv3394694
Frequency
Sample Size14
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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