A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1073159



Internal ID18978243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29299925..29300131hg38UCSC Ensembl
chr22:29695915..29696121hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38207
hg19207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3763868
SamplesKWP1
Known GenesEWSR1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1073159
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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