A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126446



Internal ID18903780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:19147267..19147496hg38UCSC Ensembl
Outerchr19:19258076..19258305hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38230
hg19230
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1730n106
Supporting Variantsnssv3984695
SamplesKWS1
Known GenesMEF2B, MEF2BNB-MEF2B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126446
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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