A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6687



Internal ID15551621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:53893084..53928400hg38UCSC Ensembl
Outerchr10:55652844..55688160hg19UCSC Ensembl
Outerchr10:55322850..55358166hg18UCSC Ensembl
Outerchr10:55322850..55358166hg17UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg385676
hg195676
hg185676
hg175676
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv930
SamplesNA19240
Known GenesPCDH15
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)nsv6687
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