A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3053645



Internal ID21185646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88310156..88310156hg38UCSC Ensembl
chr14:88776500..88776500hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14019588
SamplesNA12878
Known GenesKCNK10
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)nsv3053645
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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