A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9950



Internal ID15540041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:86297957..86327845hg38UCSC Ensembl
Outerchr12:86691735..86721623hg19UCSC Ensembl
Outerchr12:85215866..85245754hg18UCSC Ensembl
Outerchr12:85194203..85224091hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3829889
hg1929889
hg1829889
hg1729889
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv802
Supporting Variants
SamplesNA18507
Known GenesMGAT4C
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)nssv9950
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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