A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5939



Internal ID15550798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:126639301..126682724hg38UCSC Ensembl
Outerchr7:126279355..126322778hg19UCSC Ensembl
Outerchr7:126066591..126110014hg18UCSC Ensembl
Outerchr7:125873306..125916729hg17UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg3843424
hg1943424
hg1843424
hg1743424
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8421
SamplesNA12156
Known GenesGRM8
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)nsv5939
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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