A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520929



Internal ID15448222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:8633679..8714909hg38UCSC Ensembl
InnerchrX:8601720..8682950hg19UCSC Ensembl
InnerchrX:8561720..8642950hg18UCSC Ensembl
InnerchrX:8411456..8492686hg17UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg3881231
hg1981231
hg1881231
hg1781231
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv679706, nssv677829
Samples
Known GenesKAL1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520929
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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