A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2387



Internal ID15546950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:110826246..110851947hg38UCSC Ensembl
Outerchr1:111368868..111394569hg19UCSC Ensembl
Outerchr1:111170391..111196092hg18UCSC Ensembl
Outerchr1:111080910..111106611hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3825702
hg1925702
hg1825702
hg1725702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9324, nssv9566, nssv1328
SamplesNA18507, NA18517, NA19240
Known Genes
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)nsv2387
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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