A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1376



Internal ID15545939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:72268895..72357703hg38UCSC Ensembl
Outerchr1:72734578..72823386hg19UCSC Ensembl
Outerchr1:72507166..72595974hg18UCSC Ensembl
Outerchr1:72446599..72535407hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3888809
hg1988809
hg1888809
hg1788809
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2178, nssv5633, nssv9301, nssv10026, nssv6658, nssv9515, nssv10935, nssv4300
SamplesNA18507, NA12156, NA12878, NA18956, NA15510, NA18555, NA18517, NA19129
Known GenesNEGR1
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)nsv1376
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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