A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3769485



Internal ID19313887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128118954..128120355hg38UCSC Ensembl
chr12:128603499..128604900hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381402
hg191402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1075851
Supporting Variants
SamplesKWP1
Known GenesLOC101927694
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3769485
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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