A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003231



Internal ID18840540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:5918368..5930469hg38UCSC Ensembl
Outerchr7:5957999..5970100hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3812102
hg1912102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153955
Supporting Variants
SamplesKWB1
Known GenesCCZ1, RSPH10B, RSPH10B2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003231
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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