A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3412575



Internal ID19843551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148741695..148741757hg38UCSC Ensembl
chr7:148438787..148438849hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14693300
SamplesNA12878
Known GenesCUL1
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
CommentsAbsence of a Alu insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3412575
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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