A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv955175



Internal ID17304048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:45572721..45595120hg38UCSC Ensembl
Outerchr22:45968601..45991000hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3822400
hg1922400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000821
SamplesBILGI_BIOE
Known GenesFBLN1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv955175
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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