A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126330



Internal ID19260317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:125494254..125495354hg38UCSC Ensembl
Outerchr12:125978800..125979900hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv892n106
Supporting Variantsnssv3984569
SamplesKWS1
Known GenesTMEM132B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126330
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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