A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2189



Internal ID15200066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:2900696..2945705hg38UCSC Ensembl
Outerchr18:2900694..2945703hg19UCSC Ensembl
Outerchr18:2890694..2935703hg18UCSC Ensembl
Outerchr18:2890694..2935703hg17UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3845010
hg1945010
hg1845010
hg1745010
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7359
SamplesNA12156
Known GenesEMILIN2, LOC727896, LPIN2
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)nsv2189
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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