A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1076731



Internal ID19320663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:150418025..150422226hg38UCSC Ensembl
chrX:149586299..149590500hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg384202
hg194202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3772804
SamplesKWP1
Known GenesMAMLD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1076731
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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