A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8245



Internal ID15535619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:44897553..44942178hg38UCSC Ensembl
Outerchr6:44865290..44909915hg19UCSC Ensembl
Outerchr6:44973268..45017893hg18UCSC Ensembl
Outerchr6:44973268..45017893hg17UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3844626
hg1944626
hg1844626
hg1744626
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5286
Supporting Variants
SamplesNA12156
Known GenesSUPT3H
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)nssv8245
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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