A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115711



Internal ID18905495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:178027999..178039599hg38UCSC Ensembl
Outerchr5:177455000..177466600hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3811601
hg1911601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977519
SamplesKWS2
Known GenesFAM153C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115711
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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