A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058



Internal ID15545621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:57138668..57253943hg38UCSC Ensembl
Outerchr13:57712802..57828077hg19UCSC Ensembl
Outerchr13:56610803..56726078hg18UCSC Ensembl
Outerchr13:56610803..56726078hg17UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg38115276
hg19115276
hg18115276
hg17115276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1147, nssv9494
SamplesNA18507, NA19240
Known GenesPRR20A, PRR20B, PRR20C, PRR20D, PRR20E
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)nsv1058
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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