A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5315



Internal ID15550112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:56887244..56933963hg38UCSC Ensembl
Outerchr6:56752042..56798761hg19UCSC Ensembl
Outerchr6:56860001..56906720hg18UCSC Ensembl
Outerchr6:56860001..56906720hg17UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3846720
hg1946720
hg1846720
hg1746720
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv552
SamplesNA19240
Known GenesDST
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)nsv5315
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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