A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4288



Internal ID15548982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:30853917..30887762hg38UCSC Ensembl
Outerchr4:30855539..30889384hg19UCSC Ensembl
Outerchr4:30464637..30498482hg18UCSC Ensembl
Outerchr4:30531808..30565653hg17UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg385592
hg195592
hg185592
hg175592
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7943
SamplesNA12156
Known GenesPCDH7
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)nsv4288
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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