A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1141314



Internal ID19258839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:7965502..7970802hg38UCSC Ensembl
Outerchr18:7965500..7970800hg19UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg385301
hg195301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3992818
SamplesKWS2
Known GenesPTPRM
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1141314
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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