A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5043



Internal ID15549813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:238158802..238190308hg38UCSC Ensembl
Outerchr1:238322102..238353608hg19UCSC Ensembl
Outerchr1:236388725..236420231hg18UCSC Ensembl
Outerchr1:234648143..234679649hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg387999
hg197999
hg187999
hg177999
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10562
SamplesNA18956
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)nsv5043
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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