A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511121



Internal ID15827143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:103645160..103706809hg38UCSC Ensembl
Outerchr1:104187782..104249431hg19UCSC Ensembl
Outerchr1:103989305..104050954hg18UCSC Ensembl
Outerchr1:103899803..103961452hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3861650
hg1961650
hg1861650
hg1761650
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622424
SamplesNA10860
Known GenesAMY1A, AMY1B, AMY1C
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nsv511121
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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