A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011048



Internal ID19100265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:18250616..18275404hg38UCSC Ensembl
Innerchr1:18577110..18601898hg19UCSC Ensembl
Innerchr1:18449697..18474485hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3824789
hg1924789
hg1824789
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv130n100
Supporting Variantsnssv3466691, nssv3472901, nssv3469857, nssv3464770, nssv3700297, nssv3700296
Samples
Known GenesIGSF21
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011048
Frequency
Sample Size11257
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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