A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999854



Internal ID18847452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:103561077..103681578hg38UCSC Ensembl
Outerchr1:104103699..104224200hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38120502
hg19120502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152675
Supporting Variants
SamplesKWB1
Known GenesACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999854
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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