A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14018740



Internal ID21160218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:134376628..134376628hg38UCSC Ensembl
chr9:137268474..137268474hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3062553
Supporting Variants
SamplesCHM1
Known GenesRXRA
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)nssv14018740
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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