A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14025468



Internal ID21159675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149809165..149809252hg38UCSC Ensembl
chr5:149188728..149188815hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3055809
Supporting Variants
SamplesCHM1
Known GenesPPARGC1B
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)nssv14025468
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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