A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10042



Internal ID15542755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:75346692..75394207hg38UCSC Ensembl
Outerchr1:75812377..75859892hg19UCSC Ensembl
Outerchr1:75584965..75632480hg18UCSC Ensembl
Outerchr1:75524398..75571913hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3847516
hg1947516
hg1847516
hg1747516
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1455
Supporting Variants
SamplesNA18956
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)nssv10042
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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