A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3416147



Internal ID19847122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75183001..75197600hg38UCSC Ensembl
chr7:74598733..74613322hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3814600
hg1914590
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14738155
SamplesHG02106
Known GenesGTF2IP1, LOC100093631
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)nsv3416147
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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