A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3995760



Internal ID19193574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:124804553..124810754hg38UCSC Ensembl
Outerchr6:125125699..125131900hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg386202
hg196202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146605
Supporting Variants
SamplesKWB1
Known GenesNKAIN2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3995760
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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