A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144631



Internal ID19286110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:65227751..65227808hg38UCSC Ensembl
Outerchr12:65621531..65621588hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3995489
SamplesKWS1
Known GenesLEMD3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144631
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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