A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14802974



Internal ID19391344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:151972537..151972926hg38UCSC Ensembl
chrX:151141009..151141398hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38390
hg19390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3407453
Supporting Variants
SamplesNA19434
Known GenesGABRE
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)nssv14802974
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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