A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3412159



Internal ID19496449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:152182723..152182723hg38UCSC Ensembl
chrX:151351195..151351195hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38492
hg19492
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14799252, nssv14807202, nssv14793817, nssv14811580, nssv14794329, nssv14805983, nssv14805531, nssv14801581, nssv14801397, nssv14799490, nssv14808480, nssv14810177, nssv14804990
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesGABRA3
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)nsv3412159
Frequency
Sample Size14
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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