A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002007



Internal ID18744538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:168210225..168406735hg38UCSC Ensembl
Innerchr1:168179463..168375973hg19UCSC Ensembl
Innerchr1:166446087..166642597hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38196511
hg19196511
hg18196511
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3483276
Samples
Known GenesANKRD36BP1, LOC100505918, MIR557, SFT2D2, TBX19
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002007
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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