A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3399640



Internal ID19830617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139424843..139425207hg38UCSC Ensembl
chr7:139109589..139109953hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38365
hg19365
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14705128, nssv14703198, nssv14697709, nssv14699419, nssv14698840, nssv14694589, nssv14707597
SamplesNA12878, HG02818, HG02059, HG01352, NA19434, NA19240, HG00733
Known GenesLOC100129148
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)nsv3399640
Frequency
Sample Size14
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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