A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994584



Internal ID18876280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:75211345..75211945hg38UCSC Ensembl
Outerchr18:72923300..72923900hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143883
Supporting Variants
SamplesKWS1
Known GenesTSHZ1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994584
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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