A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997186



Internal ID16943452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:103602579..103676978hg38UCSC Ensembl
Outerchr1:104145201..104219600hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3874400
hg1974400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950526
Supporting Variants
SamplesBILGI_BIOE
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997186
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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