A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3047855



Internal ID21179901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:92488561..92488712hg38UCSC Ensembl
chr14:92954905..92955056hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14016753
SamplesNA12878
Known GenesSLC24A4
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)nsv3047855
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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