A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072645



Internal ID19326309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45568538..45568803hg38UCSC Ensembl
chr22:45964418..45964683hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3769558
SamplesKWP1
Known GenesFBLN1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072645
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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