A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148008



Internal ID18850673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:69769222..69769298hg38UCSC Ensembl
Outerchr3:69818373..69818449hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4001523
SamplesKWB1
Known GenesMITF
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148008
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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