A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1113470



Internal ID18915310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:29182460..29182526hg38UCSC Ensembl
Outerchr12:29335393..29335459hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3968764
SamplesKWS2
Known GenesFAR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1113470
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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