A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4970



Internal ID15544069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:218479568..218512914hg38UCSC Ensembl
Outerchr1:218652910..218686256hg19UCSC Ensembl
Outerchr1:216719533..216752879hg18UCSC Ensembl
Outerchr1:215041305..215074651hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg385940
hg195940
hg185940
hg175940
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4609
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)nssv4970
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