A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2745



Internal ID15195141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:205465446..205499882hg38UCSC Ensembl
Outerchr1:205434574..205469010hg19UCSC Ensembl
Outerchr1:203701197..203735633hg18UCSC Ensembl
Outerchr1:202166231..202200667hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg385587
hg195587
hg185587
hg175587
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4176
Supporting Variants
SamplesNA18555
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)nssv2745
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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