A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023



Internal ID15545586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:45368786..45391811hg38UCSC Ensembl
Outerchr13:45942921..45965946hg19UCSC Ensembl
Outerchr13:44840921..44863946hg18UCSC Ensembl
Outerchr13:44840921..44863946hg17UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg3812674
hg1912674
hg1812674
hg1712674
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1143, nssv9489
SamplesNA18507, NA19240
Known GenesTPT1-AS1
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)nsv1023
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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