A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125676



Internal ID18933163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50260832..50260900hg38UCSC Ensembl
Outerchr19:50764089..50764157hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961952, nssv3993769
SamplesKWS1, KWS2
Known GenesMYH14
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125676
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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