A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4247



Internal ID15548937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:16606809..16611472hg38UCSC Ensembl
Outerchr4:16608432..16613095hg19UCSC Ensembl
Outerchr4:16217530..16222193hg18UCSC Ensembl
Outerchr4:16284701..16289364hg17UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg388794
hg198794
hg188794
hg178794
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4732
SamplesNA19129
Known GenesLDB2, MIR548AX
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)nsv4247
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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