A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2424



Internal ID15200301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:14934808..14978815hg38UCSC Ensembl
Outerchr19:15045620..15089627hg19UCSC Ensembl
Outerchr19:14906620..14950627hg18UCSC Ensembl
Outerchr19:14906620..14950627hg17UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3844008
hg1944008
hg1844008
hg1744008
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4347
SamplesNA12878
Known GenesOR7C2, SLC1A6
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)nsv2424
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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