A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4893



Internal ID15202962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:79249734..79283335hg38UCSC Ensembl
Outerchr5:78545557..78579158hg19UCSC Ensembl
Outerchr5:78581313..78614914hg18UCSC Ensembl
Outerchr5:78581313..78614914hg17UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg385832
hg195832
hg185832
hg175832
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8118
SamplesNA12156
Known GenesJMY
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)nsv4893
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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