A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138163



Internal ID19269752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:98524333..98524389hg38UCSC Ensembl
Outerchr12:98918111..98918167hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3990711
SamplesKWS2
Known GenesTMPO
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138163
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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