A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5303



Internal ID15203413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:51845440..51924130hg38UCSC Ensembl
Outerchr6:51710238..51788928hg19UCSC Ensembl
Outerchr6:51818197..51896887hg18UCSC Ensembl
Outerchr6:51818197..51896887hg17UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3878691
hg1978691
hg1878691
hg1778691
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4914, nssv550, nssv11126, nssv2591
SamplesNA15510, NA19129, NA19240, NA18555
Known GenesPKHD1
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)nsv5303
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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