A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5784



Internal ID15550628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:69868852..69903443hg38UCSC Ensembl
Outerchr7:69333838..69368429hg19UCSC Ensembl
Outerchr7:68971774..69006365hg18UCSC Ensembl
Outerchr7:68778489..68813080hg17UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg385142
hg195142
hg185142
hg175142
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3542
SamplesNA12878
Known GenesAUTS2
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)nsv5784
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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