A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1488



Internal ID15546051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:76121937..76166950hg38UCSC Ensembl
Outerchr1:76587622..76632635hg19UCSC Ensembl
Outerchr1:76360210..76405223hg18UCSC Ensembl
Outerchr1:76299643..76344656hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3845014
hg1945014
hg1845014
hg1745014
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7263
SamplesNA12156
Known GenesST6GALNAC3
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)nsv1488
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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