A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8574



Internal ID15188604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:18659108..18703780hg38UCSC Ensembl
Outerchr1:18985602..19030274hg19UCSC Ensembl
Outerchr1:18858189..18902861hg18UCSC Ensembl
Outerchr1:18730908..18775580hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3844673
hg1944673
hg1844673
hg1744673
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5076
Supporting Variants
SamplesNA12156
Known GenesPAX7
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)nssv8574
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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