A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3989763



Internal ID18883184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:122022294..122022794hg38UCSC Ensembl
Outerchr12:122460200..122460700hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1112622
Supporting Variants
SamplesKWS2
Known GenesBCL7A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3989763
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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