A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2531



Internal ID15200408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50830372..50875341hg38UCSC Ensembl
Outerchr19:51333628..51378597hg19UCSC Ensembl
Outerchr19:56025440..56070409hg18UCSC Ensembl
Outerchr19:56025440..56070409hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3844970
hg1944970
hg1844970
hg1744970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7448
SamplesNA12156
Known GenesKLK15, KLK2, KLK3
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)nsv2531
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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