A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134765



Internal ID18913798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:19168956..19169011hg38UCSC Ensembl
Outerchr19:19279765..19279820hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972648
SamplesKWS2
Known GenesMEF2B, MEF2BNB-MEF2B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134765
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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