A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112135



Internal ID18920887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:136261477..136268161hg38UCSC Ensembl
Outerchr6:136582615..136589299hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg386685
hg196685
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3398n106
Supporting Variantsnssv3991332, nssv3966850
SamplesKWS2, KWS1
Known GenesBCLAF1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112135
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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