A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110124



Internal ID19268529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:261349..297849hg38UCSC Ensembl
Outerchr1:231100..267600hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3836501
hg1936501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959389
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110124
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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