A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115346



Internal ID18932237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:85514517..85540017hg38UCSC Ensembl
Outerchr1:85980200..86005700hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3825501
hg1925501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv120n106
Supporting Variantsnssv3976397
SamplesKWS2
Known GenesDDAH1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115346
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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