A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003621



Internal ID18846196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:128814204..128814275hg38UCSC Ensembl
Outerchr12:129298749..129298820hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150324
Supporting Variants
SamplesKWB1
Known GenesSLC15A4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003621
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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