A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv690



Internal ID15545305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:143121166..143128617hg38UCSC Ensembl
Outerchr7:142818259..142825710hg19UCSC Ensembl
Outerchr7:142528381..142535832hg18UCSC Ensembl
Outerchr7:142335096..142342547hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg386702
hg196702
hg186702
hg176702
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5983
Supporting Variants
SamplesNA19240
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)nssv690
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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