A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4863



Internal ID15202929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:65124327..65156501hg38UCSC Ensembl
Outerchr5:64420154..64452328hg19UCSC Ensembl
Outerchr5:64455910..64488084hg18UCSC Ensembl
Outerchr5:64455910..64488084hg17UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg387313
hg197313
hg187313
hg177313
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10456
SamplesNA18956
Known GenesADAMTS6
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)nsv4863
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