A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124781



Internal ID19255615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:109194516..109194619hg38UCSC Ensembl
Outerchr12:109632321..109632424hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv867n106
Supporting Variantsnssv3976834
SamplesKWS1
Known GenesACACB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124781
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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