A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14034937



Internal ID21165892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:41293510..41293578hg38UCSC Ensembl
chr15:41585708..41585776hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3062828
Supporting Variants
SamplesNA12878
Known GenesOIP5-AS1
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)nssv14034937
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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