A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1135409



Internal ID18906089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:18214146..18214660hg38UCSC Ensembl
Outerchr10:18503075..18503589hg19UCSC Ensembl
Cytoband10p12.33
Allele length
AssemblyAllele length
hg38515
hg19515
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv369n106
Supporting Variantsnssv3988312, nssv3964306
SamplesKWS2, KWS1
Known GenesCACNB2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1135409
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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