A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000677



Internal ID18844525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:151242411..151247312hg38UCSC Ensembl
Outerchr3:150960199..150965100hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg384902
hg194902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148641
Supporting Variants
SamplesKWB1
Known GenesMED12L, P2RY14
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000677
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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