A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977268



Internal ID19243931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:8058002..8063602hg38UCSC Ensembl
Outerchr18:8058000..8063600hg19UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg385601
hg195601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139682
Supporting Variants
SamplesKWS2
Known GenesPTPRM
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977268
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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