A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1149651



Internal ID18848336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:199447775..199447954hg38UCSC Ensembl
Outerchr2:200312498..200312677hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000948
SamplesKWB1
Known GenesSATB2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1149651
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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