A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024



Internal ID15198901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:45792709..45837281hg38UCSC Ensembl
Outerchr13:46366844..46411416hg19UCSC Ensembl
Outerchr13:45264845..45309417hg18UCSC Ensembl
Outerchr13:45264845..45309417hg17UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg3844573
hg1944573
hg1844573
hg1744573
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2033
SamplesNA18555
Known GenesSIAH3
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)nsv1024
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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