A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7497



Internal ID15189681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:54517932..54562920hg38UCSC Ensembl
Outerchr2:54745069..54790057hg19UCSC Ensembl
Outerchr2:54598573..54643561hg18UCSC Ensembl
Outerchr2:54656720..54701708hg17UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3844989
hg1944989
hg1844989
hg1744989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2731
Supporting Variants
SamplesNA12156
Known GenesRPL23AP32, SPTBN1
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)nssv7497
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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