A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14026598



Internal ID21154247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30792927..30792927hg38UCSC Ensembl
chr17:29119945..29119945hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38733
hg19733
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3061673
Supporting Variants
SamplesCHM1
Known GenesCRLF3
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)nssv14026598
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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