A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998958



Internal ID19193274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:55229515..55229585hg38UCSC Ensembl
Outerchr6:55094313..55094383hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151776
Supporting Variants
SamplesKWB1
Known GenesHCRTR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3998958
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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