A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996596



Internal ID18847519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:150418025..150420926hg38UCSC Ensembl
OuterchrX:149586299..149589200hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg382902
hg192902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1147808
Supporting Variants
SamplesKWB1
Known GenesMAMLD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996596
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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