A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3383187



Internal ID19814166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:108188805..108188805hg38UCSC Ensembl
chr7:107829249..107829249hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg386068
hg196068
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14752203, nssv14758250, nssv14764861, nssv14768225, nssv14756226, nssv14768616, nssv14764587, nssv14770565, nssv14756985, nssv14761983, nssv14752834, nssv14752897
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesNRCAM
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)nsv3383187
Frequency
Sample Size14
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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