A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5142



Internal ID15203236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:175900352..175932731hg38UCSC Ensembl
Outerchr5:175327355..175359734hg19UCSC Ensembl
Outerchr5:175259961..175292340hg18UCSC Ensembl
Outerchr5:175259961..175292340hg17UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg388617
hg198617
hg188617
hg178617
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv514
SamplesNA19240
Known Genes
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)nsv5142
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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