A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2051



Internal ID15546614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41348539..41376166hg38UCSC Ensembl
Outerchr17:39504791..39532418hg19UCSC Ensembl
Outerchr17:36758317..36785944hg18UCSC Ensembl
Outerchr17:36758317..36785944hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3827628
hg1927628
hg1827628
hg1727628
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1367
SamplesNA19240
Known GenesKRT33A, KRT33B
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)nsv2051
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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