A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4755



Internal ID15202810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:226608634..226643907hg38UCSC Ensembl
Outerchr1:226796335..226831608hg19UCSC Ensembl
Outerchr1:224862958..224898231hg18UCSC Ensembl
Outerchr1:223103070..223138343hg17UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg384464
hg194464
hg184464
hg174464
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3802
SamplesNA12878
Known GenesC1orf95, ITPKB
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)nsv4755
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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