A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520



Internal ID15203652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:20071053..20115978hg38UCSC Ensembl
Outerchr1:20397546..20442471hg19UCSC Ensembl
Outerchr1:20270133..20315058hg18UCSC Ensembl
Outerchr1:20142852..20187777hg17UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3844926
hg1944926
hg1844926
hg1744926
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5380
SamplesNA19129
Known GenesPLA2G2D, PLA2G5
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)nsv5520
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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