A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128818



Internal ID19267589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:134650730..134656630hg38UCSC Ensembl
Outerchr2:135408300..135414200hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg385901
hg195901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961486
SamplesKWS1
Known GenesTMEM163
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128818
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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