A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14033929



Internal ID21156159
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 StatusS
Merged Variantsnsv3066124
Supporting Variants
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)nssv14033929
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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