A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078476



Internal ID19318746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237211856..237213257hg38UCSC Ensembl
chr2:238120499..238121900hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381402
hg191402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3766246
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078476
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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