A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2497



Internal ID15547060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:42774571..43047152hg38UCSC Ensembl
Outerchr19:43278723..43551304hg19UCSC Ensembl
Outerchr19:47970563..48243144hg18UCSC Ensembl
Outerchr19:47970563..48243144hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38272582
hg19272582
hg18272582
hg17272582
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10190, nssv6790
SamplesNA12156, NA18956
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG6, PSG7
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)nsv2497
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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