A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7471



Internal ID15536393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:116424904..116456386hg38UCSC Ensembl
Outerchr1:116967526..116999008hg19UCSC Ensembl
Outerchr1:116769049..116800531hg18UCSC Ensembl
Outerchr1:116679568..116711050hg17UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg385357
hg195357
hg185357
hg175357
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2544
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)nssv7471
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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