A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3444



Internal ID15538172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:65664325..65708367hg38UCSC Ensembl
Outerchr6:66374218..66418260hg19UCSC Ensembl
Outerchr6:66430939..66474981hg18UCSC Ensembl
Outerchr6:66430939..66474981hg17UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3844043
hg1944043
hg1844043
hg1744043
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5329
Supporting Variants
SamplesNA12878
Known GenesEYS
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)nssv3444
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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