A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000571



Internal ID19190277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:35682144..35682208hg38UCSC Ensembl
Outerchr7:35721754..35721818hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148532
Supporting Variants
SamplesKWB1
Known GenesHERPUD2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000571
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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