A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134208



Internal ID18919771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:22058233..22058298hg38UCSC Ensembl
Outerchr12:22211167..22211232hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3971294, nssv3982933
SamplesKWS2, KWS1
Known GenesCMAS
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134208
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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