A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv488



Internal ID15549633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:37227751..37261403hg38UCSC Ensembl
Outerchr1:37693352..37727004hg19UCSC Ensembl
Outerchr1:37465939..37499591hg18UCSC Ensembl
Outerchr1:37362445..37396097hg17UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg387304
hg197304
hg187304
hg177304
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1081
SamplesNA19240
Known Genes
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)nsv488
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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