A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14028566



Internal ID21161647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:78314544..78314544hg38UCSC Ensembl
chr9:80929460..80929460hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3047153
Supporting Variants
SamplesNA12878
Known GenesPSAT1
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)nssv14028566
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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