A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112622



Internal ID18906946
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 StatusM
Merged Variants
Supporting Variantsnssv3980921, nssv3989763
SamplesKWS2, KWS1
Known GenesBCL7A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112622
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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