A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3981436



Internal ID19215004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:76392844..76394844hg38UCSC Ensembl
Outerchr18:74104800..74106800hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg382001
hg192001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1144840
Supporting Variants
SamplesKWS1
Known GenesZNF516
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3981436
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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