A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8250



Internal ID15188928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:55394592..55439247hg38UCSC Ensembl
Outerchr6:55259390..55304045hg19UCSC Ensembl
Outerchr6:55367349..55412004hg18UCSC Ensembl
Outerchr6:55367349..55412004hg17UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3844656
hg1944656
hg1844656
hg1744656
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5311
Supporting Variants
SamplesNA12156
Known GenesGFRAL, HMGCLL1
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)nssv8250
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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