A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014991



Internal ID18757526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:27560502..27628874hg38UCSC Ensembl
Innerchr1:27887013..27955385hg19UCSC Ensembl
Innerchr1:27759600..27827972hg18UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg3868373
hg1968373
hg1868373
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3700634
Samples
Known GenesAHDC1, FGR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014991
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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