A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3397114



Internal ID19828091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:107770155..107770242hg38UCSC Ensembl
chr7:107410600..107410687hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14771411, nssv14761231, nssv14769331, nssv14771670, nssv14757429, nssv14758079, nssv14771519, nssv14752955, nssv14770019, nssv14770395, nssv14761237, nssv14765388, nssv14753891, nssv14767326
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesSLC26A3
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)nsv3397114
Frequency
Sample Size14
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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