A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3045048



Internal ID21176862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:5604227..5604227hg38UCSC Ensembl
chr7_gl000195_random:30697..30697hg19UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14018647
SamplesNA12878
Known Genes
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)nsv3045048
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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