A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078477



Internal ID19326602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238532958..238551659hg38UCSC Ensembl
chr2:239441599..239460300hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3818702
hg1918702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770221
SamplesKWP1
Known GenesLINC01107
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078477
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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