A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000778



Internal ID16947044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22_KI270879v1_alt:237452..291702hg38UCSC Ensembl
Outerchr22:24343101..24399700hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3854251
hg1956600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953056
Supporting Variants
SamplesBILGI_BIOE
Known GenesGSTT1, GSTTP1, GSTTP2, LOC391322
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000778
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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