A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14734767



Internal ID19463065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75114201..75127400hg38UCSC Ensembl
chr7:74530011..74543200hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3813200
hg1913190
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3410079
Supporting Variants
SamplesHG00268
Known GenesGTF2IRD2, GTF2IRD2B
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)nssv14734767
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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