A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3375625



Internal ID19806603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:56149012..56149120hg38UCSC Ensembl
chr19:56660381..56660489hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14621832, nssv14621047, nssv14629122, nssv14616429
SamplesNA19434, NA19240, HG00733, HG00514
Known GenesZNF444
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)nsv3375625
Frequency
Sample Size14
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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