A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2332



Internal ID15194124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:41296686..42137056hg38UCSC Ensembl
Outerchr20:39925326..40765696hg19UCSC Ensembl
Outerchr20:39358740..40199110hg18UCSC Ensembl
Outerchr20:39358740..40199110hg17UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38840371
hg19840371
hg18840371
hg17840371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3381
Supporting Variants
SamplesNA18555
Known GenesCHD6, EMILIN3, LPIN3, PTPRT, ZHX3
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)nssv2332
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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