A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3989236



Internal ID18869291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:919689..920449hg38UCSC Ensembl
Outerchr12:1028855..1029615hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38761
hg19761
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1135664
Supporting Variants
SamplesKWS1
Known GenesRAD52
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3989236
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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