A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14031532



Internal ID21163609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:26104513..26104513hg38UCSC Ensembl
chr9:26104511..26104511hg19UCSC Ensembl
Cytoband9p21.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3047796
Supporting Variants
SamplesNA12878
Known GenesLOC100506422
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)nssv14031532
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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