A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977519



Internal ID18881143
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 StatusS
Merged Variantsnsv1115711
Supporting Variants
SamplesKWS2
Known GenesFAM153C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977519
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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