A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1113471



Internal ID18937746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:29710925..29710987hg38UCSC Ensembl
Outerchr12:29863858..29863920hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983243, nssv3968766
SamplesKWS1, KWS2
Known GenesTMTC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1113471
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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