A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10980



Internal ID15539568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:81412148..81437932hg38UCSC Ensembl
Outerchr17:79385948..79404958hg19UCSC Ensembl
Outerchr17:77000543..77019553hg18UCSC Ensembl
Outerchr17:77000543..77019553hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3810104
hg1910104
hg1810104
hg1710104
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2163
Supporting Variants
SamplesNA15510
Known GenesBAHCC1
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)nssv10980
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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