A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112137



Internal ID18915558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:136273187..136275531hg38UCSC Ensembl
Outerchr6:136594325..136596669hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg382345
hg192345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3400n106
Supporting Variantsnssv3989234, nssv3958555
SamplesKWS1, KWS2
Known GenesBCLAF1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112137
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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