A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008617



Internal ID18751148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:91585286..92003636hg38UCSC Ensembl
Innerchr2:91773332..92191662hg19UCSC Ensembl
Innerchr2:91137059..91555389hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38418351
hg19418331
hg18418331
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4003n100
Supporting Variantsnssv3729122
Samples
Known GenesACTR3BP2, GGT8P, LOC654342
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008617
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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