A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3847



Internal ID15538574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:246805338..246833937hg38UCSC Ensembl
Outerchr1:246968640..246997239hg19UCSC Ensembl
Outerchr1:245035263..245063862hg18UCSC Ensembl
Outerchr1:243294681..243323280hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg385850
hg195850
hg185850
hg175850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5265
Supporting Variants
SamplesNA12878
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)nssv3847
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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