A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714



Internal ID15550551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:40986424..41020215hg38UCSC Ensembl
Outerchr7:41026022..41059813hg19UCSC Ensembl
Outerchr7:40992547..41026338hg18UCSC Ensembl
Outerchr7:40799262..40833053hg17UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3833792
hg1933792
hg1833792
hg1733792
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8366
SamplesNA12156
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)nsv5714
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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