A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997751



Internal ID19157288
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 StatusM
Merged Variantsdgv581n100
Supporting Variantsnssv3485527
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)nsv997751
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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