A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002497



Internal ID19091714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:88867114..88998570hg38UCSC Ensembl
Innerchr2:89166626..89298067hg19UCSC Ensembl
Innerchr2:88947741..89079182hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38131457
hg19131442
hg18131442
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3934n100
Supporting Variantsnssv3729921
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002497
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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