A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3988319



Internal ID19221415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:75503830..75503917hg38UCSC Ensembl
Outerchr5:74799655..74799742hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1133360
Supporting Variants
SamplesKWS1
Known GenesCOL4A3BP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3988319
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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