A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729



Internal ID15550567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:47219217..47254566hg38UCSC Ensembl
Outerchr7:47258815..47294164hg19UCSC Ensembl
Outerchr7:47225340..47260689hg18UCSC Ensembl
Outerchr7:47032055..47067404hg17UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg384386
hg194386
hg184386
hg174386
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3526
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)nsv5729
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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