A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122735



Internal ID19267790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:53404446..53404509hg38UCSC Ensembl
Outerchr12:53798230..53798293hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3971322
SamplesKWS2
Known GenesSP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122735
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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