A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv670749



Internal ID15407401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:12370061..12401877hg38UCSC Ensembl
InnerchrX:12388180..12419996hg19UCSC Ensembl
InnerchrX:12298101..12329917hg18UCSC Ensembl
InnerchrX:12147837..12179653hg17UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3831817
hg1931817
hg1831817
hg1731817
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516772
Supporting Variants
Samples
Known GenesFRMPD4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv670749
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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