A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6555



Internal ID15204790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:70225054..70259811hg38UCSC Ensembl
Outerchr9:72839970..72874727hg19UCSC Ensembl
Outerchr9:72029790..72064547hg18UCSC Ensembl
Outerchr9:70069524..70104281hg17UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg385300
hg195300
hg185300
hg175300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3724, nssv5160
SamplesNA19129, NA12878
Known GenesMAMDC2, SMC5, SMC5-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)nsv6555
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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