A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7290



Internal ID15536574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:8178349..8223514hg38UCSC Ensembl
Outerchr1:8238409..8283574hg19UCSC Ensembl
Outerchr1:8160996..8206161hg18UCSC Ensembl
Outerchr1:8172675..8217840hg17UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3845166
hg1945166
hg1845166
hg1745166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1632
Supporting Variants
SamplesNA12156
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)nssv7290
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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