A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4250



Internal ID15548941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:16934413..16951168hg38UCSC Ensembl
Outerchr4:16936036..16952791hg19UCSC Ensembl
Outerchr4:16545134..16561889hg18UCSC Ensembl
Outerchr4:16612305..16629060hg17UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg3816756
hg1916756
hg1816756
hg1716756
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10398
SamplesNA18956
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)nsv4250
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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