A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14018148



Internal ID21155901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:6688742..6688804hg38UCSC Ensembl
chr11:6709973..6710035hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3061711
Supporting Variants
SamplesCHM1
Known Genes
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)nssv14018148
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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