A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5774



Internal ID15550617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:67110224..67132097hg38UCSC Ensembl
Outerchr7:66575211..66597084hg19UCSC Ensembl
Outerchr7:66212646..66234519hg18UCSC Ensembl
Outerchr7:66019361..66041234hg17UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg386213
hg196213
hg186213
hg176213
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4988, nssv3541
SamplesNA12878, NA19129
Known GenesMIR4650-1, MIR4650-2, TYW1
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)nsv5774
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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