A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999827



Internal ID18841196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132317005..132317148hg38UCSC Ensembl
Outerchr12:132893591..132893734hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152646
Supporting Variants
SamplesKWB1
Known GenesGALNT9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999827
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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