A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14018405



Internal ID21169963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60614203..60614203hg38UCSC Ensembl
chr8:61526762..61526762hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38296
hg19296
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3051197
Supporting Variants
SamplesNA12878
Known GenesRAB2A
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)nssv14018405
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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