A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4943



Internal ID15549703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:234971684..234999204hg38UCSC Ensembl
Outerchr1:235107431..235134951hg19UCSC Ensembl
Outerchr1:233174054..233201574hg18UCSC Ensembl
Outerchr1:231414166..231441686hg17UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg386366
hg196366
hg186366
hg176366
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8195
SamplesNA12156
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)nsv4943
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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