A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2571784



Internal ID17772873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103693859..103694963hg38UCSC Ensembl
Innerchr1:104236481..104237585hg19UCSC Ensembl
Innerchr1:104038004..104039108hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg381105
hg191105
hg181105
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945582
Supporting Variants
SamplesHGDP00542
Known GenesAMY1A, AMY1B, AMY1C
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2571784
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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