A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126328



Internal ID18938742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:123911153..123912553hg38UCSC Ensembl
Outerchr12:124395700..124397100hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381401
hg191401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv887n106
Supporting Variantsnssv3984567
SamplesKWS1
Known GenesDNAH10
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126328
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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