A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5027



Internal ID15549795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:139106089..139138803hg38UCSC Ensembl
Outerchr5:138441778..138474492hg19UCSC Ensembl
Outerchr5:138469677..138502391hg18UCSC Ensembl
Outerchr5:138469677..138502391hg17UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg387312
hg197312
hg187312
hg177312
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2546
SamplesNA18555
Known GenesSIL1
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)nsv5027
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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