A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998077



Internal ID18847057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:123807852..123807948hg38UCSC Ensembl
Outerchr12:124292399..124292495hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153044
Supporting Variants
SamplesKWB1
Known GenesDNAH10
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3998077
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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