A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075436



Internal ID19323175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126450104..126451705hg38UCSC Ensembl
chr11:126319999..126321600hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg381602
hg191602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770740
SamplesKWP1
Known GenesKIRREL3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075436
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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