A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14022059



Internal ID21172405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:24683760..24683760hg38UCSC Ensembl
chr6:24683988..24683988hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38702
hg19702
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3046957
Supporting Variants
SamplesNA12878
Known GenesACOT13
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)nssv14022059
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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