A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3960507



Internal ID18862133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:85514517..85519117hg38UCSC Ensembl
Outerchr1:85980200..85984800hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg384601
hg194601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1128596
Supporting Variants
SamplesKWS1
Known GenesDDAH1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3960507
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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