A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2045



Internal ID15199922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:38894987..38927408hg38UCSC Ensembl
Outerchr17:37051240..37083661hg19UCSC Ensembl
Outerchr17:34304766..34337187hg18UCSC Ensembl
Outerchr17:34304766..34337187hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg387608
hg197608
hg187608
hg177608
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2173
SamplesNA18555
Known GenesLASP1, LINC00672, MIR6779
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)nsv2045
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer