A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv732



Internal ID15205631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:43976690..43992799hg38UCSC Ensembl
Outerchr1:44442362..44458471hg19UCSC Ensembl
Outerchr1:44214949..44231058hg18UCSC Ensembl
Outerchr1:44111455..44127564hg17UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg387017
hg197017
hg187017
hg177017
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10840
SamplesNA18956
Known GenesATP6V0B, B4GALT2, CCDC24
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)nsv732
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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