A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7548



Internal ID15205882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:110899306..110930750hg38UCSC Ensembl
Outerchr10:112659064..112690508hg19UCSC Ensembl
Outerchr10:112649054..112680498hg18UCSC Ensembl
Outerchr10:112649054..112680498hg17UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg388289
hg198289
hg188289
hg178289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3899
SamplesNA12878
Known GenesBBIP1, PDCD4, SHOC2
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)nsv7548
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