A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5386



Internal ID15542986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:20338339..20368939hg38UCSC Ensembl
Outerchr1:20664832..20695432hg19UCSC Ensembl
Outerchr1:20537419..20568019hg18UCSC Ensembl
Outerchr1:20410138..20440738hg17UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg388679
hg198679
hg188679
hg178679
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5631
Supporting Variants
SamplesNA19129
Known GenesLINC01141, VWA5B1
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)nssv5386
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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