A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2250



Internal ID15546813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:32893794..32925963hg38UCSC Ensembl
Outerchr18:30473758..30505927hg19UCSC Ensembl
Outerchr18:28727756..28759925hg18UCSC Ensembl
Outerchr18:28727756..28759925hg17UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3832170
hg1932170
hg1832170
hg1732170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4314
SamplesNA12878
Known Genes
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)nsv2250
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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