A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1127285



Internal ID18917321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:99777733..99777795hg38UCSC Ensembl
Outerchr12:100171511..100171573hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3985690
SamplesKWS1
Known GenesANKS1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1127285
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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