A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3066124



Internal ID21197528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:61340328..61340667hg38UCSC Ensembl
chr11:61107800..61108139hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv252n140
Supporting Variantsnssv14033929
SamplesCHM1
Known GenesDAK
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)nsv3066124
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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