A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3985353



Internal ID18864842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:168055321..168056494hg38UCSC Ensembl
Outerchr1:168024559..168025732hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg381174
hg191174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1121074
Supporting Variants
SamplesKWS1
Known GenesDCAF6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3985353
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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