A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3771462



Internal ID18961432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126435804..126438505hg38UCSC Ensembl
chr11:126305699..126308400hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg382702
hg192702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1076383
Supporting Variants
SamplesKWP1
Known GenesKIRREL3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3771462
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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