A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11126



Internal ID15192767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:51873948..51924130hg38UCSC Ensembl
Outerchr6:51738746..51788928hg19UCSC Ensembl
Outerchr6:51846705..51896887hg18UCSC Ensembl
Outerchr6:51846705..51896887hg17UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3850183
hg1950183
hg1850183
hg1750183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5303
Supporting Variants
SamplesNA15510
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)nssv11126
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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