A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517651



Internal ID15098258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16005414..16054087hg38UCSC Ensembl
Innerchr1:16331909..16380582hg19UCSC Ensembl
Innerchr1:16204496..16253169hg18UCSC Ensembl
Innerchr1:16077215..16125888hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3848674
hg1948674
hg1848674
hg1748674
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv674326, nssv680788, nssv673768, nssv674672, nssv655929, nssv698988, nssv692238, nssv687919, nssv680689, nssv661818, nssv678289, nssv669108, nssv669004, nssv659185, nssv692440, nssv653562, nssv701973, nssv656487, nssv664299, nssv656190, nssv668525, nssv683268, nssv673015, nssv673550, nssv667590, nssv654197, nssv666809, nssv701339, nssv674154, nssv670058, nssv683426, nssv663351, nssv653845, nssv675618, nssv685627, nssv688461, nssv700288, nssv669916, nssv687387, nssv664812, nssv672518
Samples
Known GenesC1orf64, CLCNKA, CLCNKB, HSPB7
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517651
Frequency
Sample Size2026
Observed Gain5
Observed Loss36
Observed Complex0
Frequencyn/a


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