A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001



Internal ID15198878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:34917213..34948677hg38UCSC Ensembl
Outerchr13:35491350..35522814hg19UCSC Ensembl
Outerchr13:34389350..34420814hg18UCSC Ensembl
Outerchr13:34389350..34420814hg17UCSC Ensembl
Cytoband13q13.2
Allele length
AssemblyAllele length
hg387795
hg197795
hg187795
hg177795
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5470
SamplesNA19129
Known GenesNBEA
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)nsv1001
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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