A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2314



Internal ID15200191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:54849580..54896132hg38UCSC Ensembl
Outerchr18:52516811..52563363hg19UCSC Ensembl
Outerchr18:50667809..50714361hg18UCSC Ensembl
Outerchr18:50667809..50714361hg17UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3846553
hg1946553
hg1846553
hg1746553
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6762
SamplesNA12156
Known GenesRAB27B
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)nsv2314
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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