A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976916



Internal ID19230081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23090913..23092013hg38UCSC Ensembl
Outerchr22:23433100..23434200hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124862
Supporting Variants
SamplesKWS2
Known GenesGNAZ, RTDR1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976916
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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