A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5460



Internal ID15543376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:30759503..30790509hg38UCSC Ensembl
Outerchr1:31232350..31263356hg19UCSC Ensembl
Outerchr1:31004937..31035943hg18UCSC Ensembl
Outerchr1:30901443..30932449hg17UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg388268
hg198268
hg188268
hg178268
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7690
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)nssv5460
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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