A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945582



Internal ID18592433
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 StatusM
Merged Variants
Supporting Variantsnssv2571782, nssv2571787, nssv2571781, nssv2571784, nssv2571783, nssv2571785, nssv2571778, nssv2571780, nssv2571786, nssv2571779
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesAMY1A, AMY1B, AMY1C
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945582
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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