A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7344



Internal ID15536520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:64707037..64741107hg38UCSC Ensembl
Outerchr17:62703155..62737225hg19UCSC Ensembl
Outerchr17:60133617..60167687hg18UCSC Ensembl
Outerchr17:60133617..60167687hg17UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg385363
hg195363
hg185363
hg175363
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2122
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)nssv7344
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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