A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3050414



Internal ID21182464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29299969..29300038hg38UCSC Ensembl
chr22:29695959..29696028hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14016200
SamplesNA12878
Known GenesEWSR1
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)nsv3050414
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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