A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5176



Internal ID15549959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:244798374..244830268hg38UCSC Ensembl
Outerchr1:244961676..244993570hg19UCSC Ensembl
Outerchr1:243028299..243060193hg18UCSC Ensembl
Outerchr1:241287717..241319611hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg387393
hg197393
hg187393
hg177393
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5059
SamplesNA19129
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)nsv5176
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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