A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7305



Internal ID15189873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:8405198..8415050hg38UCSC Ensembl
Outerchr17:8308516..8318368hg19UCSC Ensembl
Outerchr17:8249241..8259093hg18UCSC Ensembl
Outerchr17:8249241..8259093hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg385634
hg195634
hg185634
hg175634
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1968
Supporting Variants
SamplesNA12156
Known Genes
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)nssv7305
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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