A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4888



Internal ID15549642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:233455924..233488029hg38UCSC Ensembl
Outerchr1:233591670..233623775hg19UCSC Ensembl
Outerchr1:231658293..231690398hg18UCSC Ensembl
Outerchr1:229898405..229930510hg17UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg387627
hg197627
hg187627
hg177627
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3839
SamplesNA12878
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv4888
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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