A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119978



Internal ID18910442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:99068732..99068782hg38UCSC Ensembl
Outerchr12:99462510..99462560hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3982982
SamplesKWS1
Known GenesANKS1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119978
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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