A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4696



Internal ID15202745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:6639024..6673657hg38UCSC Ensembl
Outerchr5:6639137..6673770hg19UCSC Ensembl
Outerchr5:6692137..6726770hg18UCSC Ensembl
Outerchr5:6692137..6726770hg17UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg385399
hg195399
hg185399
hg175399
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3150
SamplesNA18555
Known GenesSRD5A1
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)nsv4696
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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