A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999240



Internal ID19187623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:103668187..103668241hg38UCSC Ensembl
Outerchr12:104061965..104062019hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152062
Supporting Variants
SamplesKWB1
Known GenesSTAB2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999240
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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