A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5258



Internal ID15550049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:35633947..35690567hg38UCSC Ensembl
Outerchr6:35601724..35658344hg19UCSC Ensembl
Outerchr6:35709702..35766322hg18UCSC Ensembl
Outerchr6:35709702..35766322hg17UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3856621
hg1956621
hg1856621
hg1756621
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2583, nssv8233
SamplesNA12156, NA18555
Known GenesFKBP5, MIR5690
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)nsv5258
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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