A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5972



Internal ID15550835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:141493048..141507607hg38UCSC Ensembl
Outerchr7:141192848..141207407hg19UCSC Ensembl
Outerchr7:140839317..140853876hg18UCSC Ensembl
Outerchr7:140646032..140660591hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg387777
hg197777
hg187777
hg177777
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv686
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)nsv5972
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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