A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2214



Internal ID15541497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:29456326..29466309hg38UCSC Ensembl
Outerchr19:29947233..29957216hg19UCSC Ensembl
Outerchr19:34639073..34649056hg18UCSC Ensembl
Outerchr19:34639073..34649056hg17UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg389984
hg199984
hg189984
hg179984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2455
Supporting Variants
SamplesNA18555
Known GenesLOC284395
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)nssv2214
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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