A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138116



Internal ID19272655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:29127301..29127617hg38UCSC Ensembl
Outerchr12:29280234..29280550hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3968763, nssv3982937
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138116
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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