A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4798



Internal ID15549543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:38313520..38347724hg38UCSC Ensembl
Outerchr5:38313622..38347826hg19UCSC Ensembl
Outerchr5:38349379..38383583hg18UCSC Ensembl
Outerchr5:38349379..38383583hg17UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg385542
hg195542
hg185542
hg175542
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3345
SamplesNA12878
Known GenesEGFLAM
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)nsv4798
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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