A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010576



Internal ID18753107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152819240..152855176hg38UCSC Ensembl
Innerchr1:152791716..152827652hg19UCSC Ensembl
Innerchr1:151058340..151094276hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3835937
hg1935937
hg1835937
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3490290
Samples
Known GenesLCE1A, LCE6A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010576
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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