A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6999



Internal ID15190179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:27345402..27378157hg38UCSC Ensembl
Outerchr3:27386893..27419648hg19UCSC Ensembl
Outerchr3:27361897..27394652hg18UCSC Ensembl
Outerchr3:27361897..27394652hg17UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg386666
hg196666
hg186666
hg176666
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3742
Supporting Variants
SamplesNA12156
Known GenesNEK10, SLC4A7
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)nssv6999
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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