A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6553



Internal ID15204788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:70158015..70174056hg38UCSC Ensembl
Outerchr9:72772931..72788972hg19UCSC Ensembl
Outerchr9:71962751..71978792hg18UCSC Ensembl
Outerchr9:70002485..70018526hg17UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg385820
hg195820
hg185820
hg175820
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10671
SamplesNA18956
Known GenesMAMDC2, MAMDC2-AS1
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)nsv6553
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