A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4723



Internal ID15549461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:13865352..13888481hg38UCSC Ensembl
Outerchr5:13865461..13888590hg19UCSC Ensembl
Outerchr5:13918461..13941590hg18UCSC Ensembl
Outerchr5:13918461..13941590hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg385578
hg195578
hg185578
hg175578
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2685
SamplesNA18555
Known GenesDNAH5
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)nsv4723
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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