A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1076347



Internal ID19322186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149566418..149578042hg38UCSC Ensembl
chr1:148788699..148800300hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3811625
hg1911602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3762848
SamplesKWP1
Known GenesLOC101929780
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1076347
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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