A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv660025



Internal ID15049991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:68686102..68949573hg38UCSC Ensembl
InnerchrX:67905944..68169416hg19UCSC Ensembl
InnerchrX:67822669..68086141hg18UCSC Ensembl
InnerchrX:67688965..67952437hg17UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38263472
hg19263473
hg18263473
hg17263473
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516469
Supporting Variants
Samples
Known GenesEFNB1, STARD8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv660025
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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