A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3959398



Internal ID18865999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:103623678..103676978hg38UCSC Ensembl
Outerchr1:104166300..104219600hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3853301
hg1953301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1110133
Supporting Variants
SamplesKWS1
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3959398
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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