A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2087



Internal ID15546650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:51907502..51941035hg38UCSC Ensembl
Outerchr17:49984862..50018395hg19UCSC Ensembl
Outerchr17:47339861..47373394hg18UCSC Ensembl
Outerchr17:47339861..47373394hg17UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg386496
hg196496
hg186496
hg176496
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2970, nssv1376
SamplesNA18555, NA19240
Known GenesCA10
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)nsv2087
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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