A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14516761



Internal ID19507030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6579044..6579178hg38UCSC Ensembl
chr12:6688210..6688344hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3337264
Supporting Variants
SamplesHG00733
Known GenesCHD4
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)nssv14516761
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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