A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2453



Internal ID15200330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:29266848..29310657hg38UCSC Ensembl
Outerchr19:29757755..29801564hg19UCSC Ensembl
Outerchr19:34449595..34493404hg18UCSC Ensembl
Outerchr19:34449595..34493404hg17UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg385773
hg195773
hg185773
hg175773
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1445, nssv2993
SamplesNA18555, NA19240
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)nsv2453
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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