A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5499



Internal ID15543968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:38240075..38246679hg38UCSC Ensembl
Outerchr1:38705747..38712351hg19UCSC Ensembl
Outerchr1:38478334..38484938hg18UCSC Ensembl
Outerchr1:38374840..38381444hg17UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg385456
hg195456
hg185456
hg175456
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv544
Supporting Variants
SamplesNA19129
Known Genes
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)nssv5499
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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