A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4877



Internal ID15549630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:232520911..232554806hg38UCSC Ensembl
Outerchr1:232656657..232690552hg19UCSC Ensembl
Outerchr1:230723280..230757175hg18UCSC Ensembl
Outerchr1:228963392..228997287hg17UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg385386
hg195386
hg185386
hg175386
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4999
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)nsv4877
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer