A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130908



Internal ID19249180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:22314071..22320711hg38UCSC Ensembl
Outerchr12:22467005..22473645hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg386641
hg196641
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984359, nssv3966589
SamplesKWS2, KWS1
Known GenesST8SIA1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130908
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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