A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3049715



Internal ID21181764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:115254282..115254566hg38UCSC Ensembl
chr1:115796903..115797187hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38285
hg19285
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv59n140
Supporting Variantsnssv14025941
SamplesNA12878
Known Genes
MethodSequencing
AnalysisCombines the NGS (e.g., Illumina) and SMS (e.g., Pacbio) for detecting large and small SVs (parameters the same as commit eee31f6 of https://bitbucket.org/xianfan/hybridassemblysv)
Platform
Comments
ReferenceFan_et_al_2017
Pubmed ID28104618
Accession Number(s)nsv3049715
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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