A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133617



Internal ID19256047
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 StatusM
Merged Variants
Supporting Variantsnssv3981844, nssv3969559
SamplesKWS2, KWS1
Known GenesFGF18
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133617
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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