A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5605



Internal ID15550431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170387559..170417406hg38UCSC Ensembl
Outerchr6:170696647..170726494hg19UCSC Ensembl
Outerchr6:170538572..170568419hg18UCSC Ensembl
Outerchr6:170614279..170644126hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3810381
hg1910381
hg1810381
hg1710381
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6109, nssv4957, nssv9899, nssv3492
SamplesNA18507, NA12156, NA12878, NA19129
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)nsv5605
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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