A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5547



Internal ID15543909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:33735523..33745591hg38UCSC Ensembl
Outerchr15:34027724..34037792hg19UCSC Ensembl
Outerchr15:31815016..31825084hg18UCSC Ensembl
Outerchr15:31815016..31825084hg17UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg387404
hg197404
hg187404
hg177404
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1484
Supporting Variants
SamplesNA19129
Known GenesRYR3
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)nssv5547
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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