A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004641



Internal ID19093858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:91585286..92117746hg38UCSC Ensembl
Innerchr2:91773332..92305772hg19UCSC Ensembl
Innerchr2:91137059..91669499hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38532461
hg19532441
hg18532441
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4003n100
Supporting Variantsnssv3729123, nssv3579531
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)nsv1004641
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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