A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2993



Internal ID15194866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:29266848..29301094hg38UCSC Ensembl
Outerchr19:29757755..29792001hg19UCSC Ensembl
Outerchr19:34449595..34483841hg18UCSC Ensembl
Outerchr19:34449595..34483841hg17UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg385773
hg195773
hg185773
hg175773
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2453
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)nssv2993
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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