A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128957



Internal ID18925038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:102612053..102646953hg38UCSC Ensembl
Outerchr7:102252500..102287400hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3834901
hg1934901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961628
SamplesKWS1
Known GenesPOLR2J2, RASA4, RASA4B, UPK3BL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128957
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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