A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9178



Internal ID15534686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:5902069..5947327hg38UCSC Ensembl
Outerchr1:5962129..6007387hg19UCSC Ensembl
Outerchr1:5884716..5929974hg18UCSC Ensembl
Outerchr1:5896395..5941653hg17UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3845259
hg1945259
hg1845259
hg1745259
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv743
Supporting Variants
SamplesNA12156
Known GenesNPHP4
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)nssv9178
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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