A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118436



Internal ID19249904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:103718178..103760878hg38UCSC Ensembl
Outerchr1:104260800..104303500hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3842701
hg1942701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3958942
SamplesKWS1
Known GenesAMY1A, AMY1B, AMY1C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118436
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer