A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2138



Internal ID15200015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:73234909..73269410hg38UCSC Ensembl
Outerchr17:71231048..71265549hg19UCSC Ensembl
Outerchr17:68742643..68777144hg18UCSC Ensembl
Outerchr17:68742643..68777144hg17UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg385520
hg195520
hg185520
hg175520
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2974
SamplesNA18555
Known GenesC17orf80, CPSF4L
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)nsv2138
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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