A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7927



Internal ID15535937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:191180047..191224917hg38UCSC Ensembl
Outerchr1:191149177..191194047hg19UCSC Ensembl
Outerchr1:189415800..189460670hg18UCSC Ensembl
Outerchr1:187880834..187925704hg17UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3844871
hg1944871
hg1844871
hg1744871
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3943
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)nssv7927
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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