A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001249



Internal ID18743780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97242637..97658064hg38UCSC Ensembl
Innerchr2:97908374..98274527hg19UCSC Ensembl
Innerchr2:97272092..97640959hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38415428
hg19366154
hg18368868
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4025n100
Supporting Variantsnssv3580018, nssv3580019
Samples
Known GenesACTR1B, ANKRD36, ANKRD36B, COX5B, LOC100506076, LOC100506123
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001249
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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