A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5982



Internal ID15204160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:142754731..142832624hg38UCSC Ensembl
Outerchr7:142142156..142240517hg18UCSC Ensembl
Outerchr7:141948871..142047232hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3877894
hg1898362
hg1798362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1691, nssv1689, nssv11164, nssv10583, nssv1690, nssv6173, nssv9729, nssv5023, nssv8441
SamplesNA18507, NA12156, NA18956, NA15510, NA18555, NA19129
Known GenesPRSS2, PRSS3P2
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)nsv5982
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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