A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557



Internal ID15550378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:157746642..157781924hg38UCSC Ensembl
Outerchr6:158167674..158202956hg19UCSC Ensembl
Outerchr6:158087662..158122944hg18UCSC Ensembl
Outerchr6:158138083..158173365hg17UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg385737
hg195737
hg185737
hg175737
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv594, nssv4950, nssv3482
SamplesNA12878, NA19240, NA19129
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)nsv5557
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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