A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997705



Internal ID19157242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152777257..152801429hg38UCSC Ensembl
Innerchr1:152749733..152773905hg19UCSC Ensembl
Innerchr1:151016357..151040529hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3824173
hg1924173
hg1824173
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv429n100
Supporting Variantsnssv3485982, nssv3501718, nssv3501076, nssv3483399, nssv3489104, nssv3496485, nssv3491010, nssv3491891, nssv3497239, nssv3491757, nssv3502548, nssv3495749
Samples
Known GenesLCE1D, LCE1E
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997705
Frequency
Sample Size11257
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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