A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3961628



Internal ID18865508
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 StatusS
Merged Variantsnsv1128957
Supporting Variants
SamplesKWS1
Known GenesPOLR2J2, RASA4, RASA4B, UPK3BL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3961628
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer