A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3064631



Internal ID21196111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24212561..24212561hg38UCSC Ensembl
chr14:24681767..24681767hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14036982
SamplesNA12878
Known GenesCHMP4A
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)nsv3064631
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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