A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1076350



Internal ID19317778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149675012..149697455hg38UCSC Ensembl
chr1:149646599..149669000hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3822444
hg1922402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3769950
SamplesKWP1
Known GenesLINC00869
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1076350
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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