A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1135320



Internal ID18908335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:919634..920334hg38UCSC Ensembl
Outerchr12:1028800..1029500hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv747n106
Supporting Variantsnssv3959401, nssv3964200
SamplesKWS2, KWS1
Known GenesRAD52
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1135320
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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