A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2020



Internal ID15541303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:128912467..128940865hg38UCSC Ensembl
Outerchr12:129397012..129425410hg19UCSC Ensembl
Outerchr12:127962965..127991363hg18UCSC Ensembl
Outerchr12:127921892..127950290hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3811632
hg1911632
hg1811632
hg1711632
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv929
Supporting Variants
SamplesNA18555
Known GenesGLT1D1
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)nssv2020
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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