A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4957



Internal ID15544092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170393692..170401963hg38UCSC Ensembl
Outerchr6:170702780..170711051hg19UCSC Ensembl
Outerchr6:170544705..170552976hg18UCSC Ensembl
Outerchr6:170620412..170628683hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg388399
hg198399
hg188399
hg178399
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5605
Supporting Variants
SamplesNA19129
Known GenesFAM120B
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)nssv4957
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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