A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013489



Internal ID19102707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97065384..97501737hg38UCSC Ensembl
Innerchr2:97731121..98118200hg19UCSC Ensembl
Innerchr2:97094848..97484632hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38436354
hg19387080
hg18389785
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4015n100
Supporting Variantsnssv3579945, nssv3729135
Samples
Known GenesANKRD36, FAHD2B, 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)nsv1013489
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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