A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3245



Internal ID15537973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:22289690..22324709hg38UCSC Ensembl
Outerchr4:22291313..22326332hg19UCSC Ensembl
Outerchr4:21900411..21935430hg18UCSC Ensembl
Outerchr4:21967582..22002601hg17UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg384717
hg194717
hg184717
hg174717
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4271
Supporting Variants
SamplesNA12878
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)nssv3245
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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