A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14030410



Internal ID21159916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:91571772..91571772hg38UCSC Ensembl
chr13:92224026..92224026hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3059616
Supporting Variants
SamplesCHM1
Known GenesGPC5
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)nssv14030410
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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