A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133453



Internal ID18904568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50261043..50261543hg38UCSC Ensembl
Outerchr19:50764300..50764800hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1797n106
Supporting Variantsnssv3969015
SamplesKWS2
Known GenesMYH14
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133453
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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