A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3969559



Internal ID19228961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:171419596..171420096hg38UCSC Ensembl
Outerchr5:170846600..170847100hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1133617
Supporting Variants
SamplesKWS2
Known GenesFGF18
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3969559
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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