A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000813



Internal ID17293765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:43327595..43346094hg38UCSC Ensembl
Outerchr22:43723601..43742100hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3818500
hg1918500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv955167
Supporting Variants
SamplesBILGI_BIOE
Known GenesSCUBE1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000813
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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