A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4973



Internal ID15549736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:119104451..119144033hg38UCSC Ensembl
Outerchr5:118440146..118479728hg19UCSC Ensembl
Outerchr5:118468045..118507627hg18UCSC Ensembl
Outerchr5:118468045..118507627hg17UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg386306
hg196306
hg186306
hg176306
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8141, nssv10471, nssv3384, nssv2539, nssv4859, nssv11109, nssv490, nssv9884
SamplesNA18507, NA12156, NA12878, NA18956, NA15510, NA18555, NA19240, NA19129
Known GenesDMXL1
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)nsv4973
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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