A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5015



Internal ID15203096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:135289703..135349301hg38UCSC Ensembl
Outerchr5:134625393..134684991hg19UCSC Ensembl
Outerchr5:134653292..134712890hg18UCSC Ensembl
Outerchr5:134653292..134712890hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg386346
hg196346
hg186346
hg176346
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2708, nssv10474, nssv3387
SamplesNA18956, NA12878, NA18555
Known GenesC5orf66, H2AFY
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)nsv5015
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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