A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1343



Internal ID15199220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:70199486..70231317hg38UCSC Ensembl
Outerchr1:70665169..70697000hg19UCSC Ensembl
Outerchr1:70437757..70469588hg18UCSC Ensembl
Outerchr1:70377190..70409021hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg387668
hg197668
hg187668
hg177668
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10021
SamplesNA18956
Known GenesLRRC40, SRSF11
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)nsv1343
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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