A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5160



Internal ID15196220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:70226244..70259811hg38UCSC Ensembl
Outerchr9:72841160..72874727hg19UCSC Ensembl
Outerchr9:72030980..72064547hg18UCSC Ensembl
Outerchr9:70070714..70104281hg17UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg385709
hg195709
hg185709
hg175709
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6555
Supporting Variants
SamplesNA19129
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)nssv5160
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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