A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3049906



Internal ID21181955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:745309..745365hg38UCSC Ensembl
chr4:739097..739153hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14031254
SamplesNA12878
Known GenesPCGF3
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)nsv3049906
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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