A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128596



Internal ID18920526
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 StatusM
Merged Variants
Supporting Variantsnssv3960507
SamplesKWS1
Known GenesDDAH1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128596
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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