A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1113484



Internal ID18918043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:53612459..53612521hg38UCSC Ensembl
Outerchr12:54006243..54006305hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3968782
SamplesKWS2
Known GenesATF7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1113484
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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