A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001707



Internal ID19194736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:144344006..144373307hg38UCSC Ensembl
Outerchr7:144041099..144070400hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3829302
hg1929302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148198
Supporting Variants
SamplesKWB1
Known GenesARHGEF5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001707
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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