A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110134



Internal ID19282711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:103685478..103717978hg38UCSC Ensembl
Outerchr1:104228100..104260600hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3832501
hg1932501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959399
SamplesKWS1
Known GenesAMY1A, AMY1B, AMY1C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110134
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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