A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14019791



Internal ID21158317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:169772627..169772692hg38UCSC Ensembl
chr6:170172723..170172788hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3060177
Supporting Variants
SamplesCHM1
Known GenesERMARD
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)nssv14019791
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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