A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002076



Internal ID18744607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:207863164..207900844hg38UCSC Ensembl
Innerchr1:208036509..208074189hg19UCSC Ensembl
Innerchr1:206103132..206140812hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3837681
hg1937681
hg1837681
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3705499
Samples
Known GenesCD34
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002076
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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