A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114873



Internal ID18913459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:136278768..136279760hg38UCSC Ensembl
Outerchr6:136599906..136600898hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38993
hg19993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3992206, nssv3957772
SamplesKWS1, KWS2
Known GenesBCLAF1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114873
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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