A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517198



Internal ID8411473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:8044207..8056756hg38UCSC Ensembl
Innerchr10:8086170..8098719hg19UCSC Ensembl
Innerchr10:8126176..8138725hg18UCSC Ensembl
Innerchr10:8126176..8138725hg17UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3812550
hg1912550
hg1812550
hg1712550
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv652234, nssv687099, nssv663810, nssv676891, nssv692743, nssv692844, nssv675440, nssv661823, nssv661956, nssv662398, nssv688950, nssv685364, nssv657180, nssv666743, nssv656197, nssv686803, nssv674076, nssv653991, nssv690281, nssv688463, nssv692443
Samples
Known GenesGATA3, GATA3-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517198
Frequency
Sample Size2026
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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