A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148957



Internal ID18856196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:45804500..45818001hg38UCSC Ensembl
Outerchr7:45844099..45857600hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg3813502
hg1913502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997742
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148957
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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