A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120190



Internal ID19253792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:60590439..60604184hg38UCSC Ensembl
Outerchr1:61056111..61069856hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg3813746
hg1913746
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960958
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120190
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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