A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138720



Internal ID18919503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50270754..50270819hg38UCSC Ensembl
Outerchr19:50774011..50774076hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3985821, nssv3972692
SamplesKWS1, KWS2
Known GenesMYH14
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138720
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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