A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2580



Internal ID15193851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31452532..31482778hg38UCSC Ensembl
Outerchr6:31420309..31450555hg19UCSC Ensembl
Outerchr6:31528288..31558534hg18UCSC Ensembl
Outerchr6:31528288..31558534hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3830247
hg1930247
hg1830247
hg1730247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5246
Supporting Variants
SamplesNA18555
Known GenesHCG26, HCP5
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)nssv2580
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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