A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv624



Internal ID15551129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:16760680..16805287hg38UCSC Ensembl
Outerchr12:16913614..16958221hg19UCSC Ensembl
Outerchr12:16804881..16849488hg18UCSC Ensembl
Outerchr12:16804881..16849488hg17UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3844608
hg1944608
hg1844608
hg1744608
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9008
SamplesNA12156
Known Genes
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)nsv624
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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