A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3058802



Internal ID21190564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112449374..112449374hg38UCSC Ensembl
chr1:112991996..112991996hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14021316
SamplesCHM1
Known GenesCTTNBP2NL
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)nsv3058802
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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