A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071793



Internal ID18970463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:40398209..40399216hg38UCSC Ensembl
chr22:40794213..40795220hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381008
hg191008
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3767206
SamplesKWP1
Known GenesSGSM3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071793
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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