A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14797716



Internal ID19378997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:52755801..52778000hg38UCSC Ensembl
chrX:52784878..52807073hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg3822200
hg1922196
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3403174
Supporting Variants
SamplesNA19434
Known GenesSSX2, SSX2B
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)nssv14797716
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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