A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1149002



Internal ID18852418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:178757545..178757594hg38UCSC Ensembl
Outerchr3:178475333..178475382hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997790
SamplesKWB1
Known GenesKCNMB2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1149002
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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