A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3446



Internal ID15538174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:72152351..72167163hg38UCSC Ensembl
Outerchr6:72862054..72876866hg19UCSC Ensembl
Outerchr6:72918775..72933587hg18UCSC Ensembl
Outerchr6:72918775..72933587hg17UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3814813
hg1914813
hg1814813
hg1714813
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5348
Supporting Variants
SamplesNA12878
Known GenesRIMS1
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)nssv3446
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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