A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118253



Internal ID19282005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:128853455..128853755hg38UCSC Ensembl
Outerchr12:129338000..129338300hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980927
SamplesKWS1
Known GenesGLT1D1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118253
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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