A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5259



Internal ID15550050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:35782160..35820302hg38UCSC Ensembl
Outerchr6:35749937..35788079hg19UCSC Ensembl
Outerchr6:35857915..35896057hg18UCSC Ensembl
Outerchr6:35857915..35896057hg17UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3812372
hg1912372
hg1812372
hg1712372
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2585, nssv542, nssv3430, nssv6063, nssv4912, nssv2584, nssv543, nssv9426
SamplesNA12156, NA12878, NA18555, NA18517, NA19240, NA19129
Known GenesCLPS, CLPSL1, LHFPL5
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)nsv5259
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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