A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5021



Internal ID15542870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:129960585..129993649hg38UCSC Ensembl
Outerchr7:129600425..129633489hg19UCSC Ensembl
Outerchr7:129387661..129420725hg18UCSC Ensembl
Outerchr7:129194376..129227440hg17UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg386214
hg196214
hg186214
hg176214
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5949
Supporting Variants
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)nssv5021
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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