A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14038310



Internal ID21168146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:38304554..38304613hg38UCSC Ensembl
chr9:38304551..38304610hg19UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3063877
Supporting Variants
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)nssv14038310
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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