A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698968



Internal ID15435620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:150413019..150416761hg38UCSC Ensembl
InnerchrX:149571602..149575352hg19UCSC Ensembl
InnerchrX:149322260..149326010hg18UCSC Ensembl
InnerchrX:149242170..149245920hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg383743
hg193751
hg183751
hg173751
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523240
Supporting Variants
Samples
Known GenesMAMLD1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv698968
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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