A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3477



Internal ID15191519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:143815739..143851175hg38UCSC Ensembl
Outerchr6:144136876..144172312hg19UCSC Ensembl
Outerchr6:144178569..144214005hg18UCSC Ensembl
Outerchr6:144178569..144214005hg17UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg384312
hg194312
hg184312
hg174312
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5514
Supporting Variants
SamplesNA12878
Known GenesLTV1, PHACTR2
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)nssv3477
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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