A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2049



Internal ID15546612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41226489..41247982hg38UCSC Ensembl
Outerchr17:39382741..39404234hg19UCSC Ensembl
Outerchr17:36636267..36657760hg18UCSC Ensembl
Outerchr17:36636267..36657760hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3821494
hg1921494
hg1821494
hg1721494
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9546, nssv5655
SamplesNA18507, NA19129
Known GenesKRTAP9-2, KRTAP9-3, KRTAP9-8
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)nsv2049
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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