A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5601



Internal ID15550427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170086045..170115936hg38UCSC Ensembl
Outerchr6:170401269..170431160hg19UCSC Ensembl
Outerchr6:170243194..170273085hg18UCSC Ensembl
Outerchr6:170318901..170348792hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg386047
hg196047
hg186047
hg176047
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2747
SamplesNA18555
Known Genes
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)nsv5601
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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