A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3485527



Internal ID19073168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227008801..227075836hg38UCSC Ensembl
Innerchr1:227196502..227263537hg19UCSC Ensembl
Innerchr1:225263125..225330160hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3867036
hg1967036
hg1867036
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv997751
Supporting Variants
Samples
Known GenesCDC42BPA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3485527
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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