A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5604



Internal ID15550430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170383362..170387448hg38UCSC Ensembl
Outerchr6:170692450..170696536hg19UCSC Ensembl
Outerchr6:170534375..170538461hg18UCSC Ensembl
Outerchr6:170610082..170614168hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg387149
hg197149
hg187149
hg177149
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2632
SamplesNA18555
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)nsv5604
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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