A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5788



Internal ID15203946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:71660495..71687747hg38UCSC Ensembl
Outerchr7:71125480..71152732hg19UCSC Ensembl
Outerchr7:70763416..70790668hg18UCSC Ensembl
Outerchr7:70570131..70597383hg17UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg384772
hg194772
hg184772
hg174772
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3546
SamplesNA12878
Known GenesWBSCR17
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)nsv5788
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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