A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1175



Internal ID15545738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:107033558..107048241hg38UCSC Ensembl
Outerchr13:107685906..107700589hg19UCSC Ensembl
Outerchr13:106483907..106498590hg18UCSC Ensembl
Outerchr13:106483907..106498590hg17UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg387027
hg197027
hg187027
hg177027
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10004
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)nsv1175
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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