A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8303



Internal ID15535561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247250608..247277630hg38UCSC Ensembl
Outerchr1:247413910..247440932hg19UCSC Ensembl
Outerchr1:245480533..245507555hg18UCSC Ensembl
Outerchr1:243739951..243766973hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg385802
hg195802
hg185802
hg175802
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5299
Supporting Variants
SamplesNA12156
Known GenesVN1R5
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)nssv8303
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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