A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005629



Internal ID18748160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248585881..248617194hg38UCSC Ensembl
Innerchr1:248749182..248780495hg19UCSC Ensembl
Innerchr1:246815805..246847118hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3831314
hg1931314
hg1831314
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3484073, nssv3497890, nssv3492535
Samples
Known GenesOR2T10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005629
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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