A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4271



Internal ID15548964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:22281372..22324709hg38UCSC Ensembl
Outerchr4:22282995..22326332hg19UCSC Ensembl
Outerchr4:21892093..21935430hg18UCSC Ensembl
Outerchr4:21959264..22002601hg17UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg385280
hg195280
hg185280
hg175280
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7937, nssv3245
SamplesNA12156, NA12878
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)nsv4271
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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