A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14025533



Internal ID21174694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2997379..2997460hg38UCSC Ensembl
chr18:2997377..2997458hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3048026
Supporting Variants
SamplesNA12878
Known GenesLPIN2
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)nssv14025533
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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