A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7512



Internal ID15552529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:26127933..26156842hg38UCSC Ensembl
Outerchr1:26454424..26483333hg19UCSC Ensembl
Outerchr1:26327011..26355920hg18UCSC Ensembl
Outerchr1:26138566..26167475hg17UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3828910
hg1928910
hg1828910
hg1728910
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6471, nssv983
SamplesNA12156, 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)nsv7512
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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