A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5230



Internal ID15550019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:26321365..26361303hg38UCSC Ensembl
Outerchr6:26321593..26361531hg19UCSC Ensembl
Outerchr6:26429572..26469510hg18UCSC Ensembl
Outerchr6:26429572..26469510hg17UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3839939
hg1939939
hg1839939
hg1739939
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534, nssv9888
SamplesNA18507, NA19240
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)nsv5230
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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