A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1253



Internal ID15544473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:55940892..55967361hg38UCSC Ensembl
Outerchr15:56233090..56259559hg19UCSC Ensembl
Outerchr15:54020382..54046851hg18UCSC Ensembl
Outerchr15:54020382..54046851hg17UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg387236
hg197236
hg187236
hg177236
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1543
Supporting Variants
SamplesNA19240
Known GenesNEDD4
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)nssv1253
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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