A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009508



Internal ID18752039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:150238763..150298405hg38UCSC Ensembl
Innerchr1:150211112..150270830hg19UCSC Ensembl
Innerchr1:148477736..148537454hg18UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3859643
hg1959719
hg1859719
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3487265
Samples
Known GenesAPH1A, C1orf51, C1orf54, CA14, MRPS21
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009508
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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