A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1455



Internal ID15546018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:75346692..75398497hg38UCSC Ensembl
Outerchr1:75812377..75864182hg19UCSC Ensembl
Outerchr1:75584965..75636770hg18UCSC Ensembl
Outerchr1:75524398..75576203hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3851806
hg1951806
hg1851806
hg1751806
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5652, nssv10042, nssv2191, nssv1206, nssv4340
SamplesNA12878, NA18956, NA18555, NA19240, NA19129
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)nsv1455
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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