A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002003



Internal ID19091220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:91460974..91844970hg38UCSC Ensembl
Innerchr2:91653350..92032996hg19UCSC Ensembl
Innerchr2:91017077..91396723hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38383997
hg19379647
hg18379647
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3996n100
Supporting Variantsnssv3579482
Samples
Known GenesGGT8P, LOC654342
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002003
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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