A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3730012



Internal ID19028293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:88959133..90228225hg38UCSC Ensembl
Innerchr2:89258652..90267091hg19UCSC Ensembl
Innerchr2:89039767..89904396hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg381269093
hg191008440
hg18864630
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1000987
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3730012
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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