A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998234



Internal ID18811084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16864355..16912960hg38UCSC Ensembl
Innerchr1:17190850..17239455hg19UCSC Ensembl
Innerchr1:17063437..17112042hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3848606
hg1948606
hg1848606
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv109n100
Supporting Variantsnssv3475190, nssv3464383
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)nsv998234
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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