A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3496265



Internal ID19083906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119567451..119605792hg38UCSC Ensembl
Innerchr1:120110074..120148415hg19UCSC Ensembl
Innerchr1:119911597..119949938hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3838342
hg1938342
hg1838342
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1014066
Supporting Variants
Samples
Known GenesHSD3BP4, LINC00622
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3496265
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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