A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2532



Internal ID15200409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:51605852..51683693hg38UCSC Ensembl
Outerchr19:52109105..52186946hg19UCSC Ensembl
Outerchr19:56800917..56878758hg18UCSC Ensembl
Outerchr19:56800917..56878758hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3877842
hg1977842
hg1877842
hg1777842
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4370, nssv11001, nssv9559, nssv5755, nssv10196, nssv7449
SamplesNA18507, NA12156, NA12878, NA18956, NA15510, NA19129
Known GenesSIGLEC14, SIGLEC5
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)nsv2532
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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