A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002072



Internal ID18744603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:84218779..84482091hg38UCSC Ensembl
Innerchr2:84445903..84709215hg19UCSC Ensembl
Innerchr2:84299414..84562726hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38263313
hg19263313
hg18263313
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3732023
Samples
Known GenesFUNDC2P2, SUCLG1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002072
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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