A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4274



Internal ID15548967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:24118783..24152123hg38UCSC Ensembl
Outerchr4:24120406..24153746hg19UCSC Ensembl
Outerchr4:23729504..23762844hg18UCSC Ensembl
Outerchr4:23796675..23830015hg17UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg386678
hg196678
hg186678
hg176678
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2458
SamplesNA18555
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)nsv4274
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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