A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997502



Internal ID18810352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:17160707..18147073hg38UCSC Ensembl
Innerchr2:17341974..18328339hg19UCSC Ensembl
Innerchr2:17205455..18191820hg18UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg38986367
hg19986366
hg18986366
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3727946
Samples
Known GenesGEN1, KCNS3, MSGN1, RAD51AP2, SMC6, VSNL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997502
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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