A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541



Internal ID15197948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32013017..32051157hg38UCSC Ensembl
Outerchr6:31980794..32018934hg19UCSC Ensembl
Outerchr6:32088772..32126912hg18UCSC Ensembl
Outerchr6:32088772..32126912hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3838141
hg1938141
hg1838141
hg1738141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5247
Supporting Variants
SamplesNA19240
Known GenesC4A, C4B, C4B_2, CYP21A2, STK19, TNXA, TNXB
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)nssv541
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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