A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126226



Internal ID18934078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:205227672..205228372hg38UCSC Ensembl
Outerchr1:205196800..205197500hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984457
SamplesKWS1
Known GenesTMCC2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126226
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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