A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143564



Internal ID18907762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:56544116..56549916hg38UCSC Ensembl
Outerchr12:56937900..56943700hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg385801
hg195801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980774
SamplesKWS1
Known GenesRBMS2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143564
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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