A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1973



Internal ID15194570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1451001..1495373hg38UCSC Ensembl
Outerchr12:1560167..1604539hg19UCSC Ensembl
Outerchr12:1430428..1474800hg18UCSC Ensembl
Outerchr12:1430428..1474800hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3844373
hg1944373
hg1844373
hg1744373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv573
Supporting Variants
SamplesNA18555
Known GenesERC1
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)nssv1973
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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