A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv729737



Internal ID15677007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:182110851..183151893hg38UCSC Ensembl
Innerchr1:182079986..183121028hg19UCSC Ensembl
Innerchr1:180346609..181387651hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381041043
hg191041043
hg181041043
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548358
Supporting Variants
Samples
Known GenesDHX9, GLUL, LAMC1, LINC00272, LOC284648, LOC400799, NPL, RGS16, RGS8, RGSL1, RNASEL, SHCBP1L, TEDDM1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv729737
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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