A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993067



Internal ID19235058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:144339707..144360107hg38UCSC Ensembl
Outerchr7:144036800..144057200hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3820401
hg1920401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141560
Supporting Variants
SamplesKWS2
Known GenesARHGEF5, RNU6-57P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993067
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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