A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994312



Internal ID19220216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:22320571..22321271hg38UCSC Ensembl
Outerchr10:22609500..22610200hg19UCSC Ensembl
Cytoband10p12.2
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143626
Supporting Variants
SamplesKWS1
Known GenesBMI1, COMMD3-BMI1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994312
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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