A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2554



Internal ID15200431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55693631..55727792hg38UCSC Ensembl
Outerchr19:56204997..56239158hg19UCSC Ensembl
Outerchr19:60896809..60930970hg18UCSC Ensembl
Outerchr19:60896809..60930970hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg385869
hg195869
hg185869
hg175869
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3003
SamplesNA18555
Known GenesEPN1, NLRP9
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)nsv2554
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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