A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075946



Internal ID19316014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79145099..79146700hg38UCSC Ensembl
chr18:76905099..76906700hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381602
hg191602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3767769
SamplesKWP1
Known GenesATP9B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075946
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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