A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv580



Internal ID15545317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:128721490..128756354hg38UCSC Ensembl
Outerchr6:129042635..129077499hg19UCSC Ensembl
Outerchr6:129084328..129119192hg18UCSC Ensembl
Outerchr6:129084328..129119192hg17UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg386124
hg196124
hg186124
hg176124
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5472
Supporting Variants
SamplesNA19240
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)nssv580
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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