A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3997027



Internal ID19193786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:93626500..93633201hg38UCSC Ensembl
OuterchrX:92881499..92888200hg19UCSC Ensembl
CytobandXq21.32
Allele length
AssemblyAllele length
hg386702
hg196702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152421
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3997027
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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