A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4304



Internal ID15549000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:38171511..38201855hg38UCSC Ensembl
Outerchr4:38173132..38203476hg19UCSC Ensembl
Outerchr4:37849527..37879871hg18UCSC Ensembl
Outerchr4:37995698..38026042hg17UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg388940
hg198940
hg188940
hg178940
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4736
SamplesNA19129
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)nsv4304
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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