A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4340



Internal ID15539067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:75360369..75389585hg38UCSC Ensembl
Outerchr1:75826054..75855270hg19UCSC Ensembl
Outerchr1:75598642..75627858hg18UCSC Ensembl
Outerchr1:75538075..75567291hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3829217
hg1929217
hg1829217
hg1729217
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1455
Supporting Variants
SamplesNA12878
Known GenesSLC44A5
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)nssv4340
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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