A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125117



Internal ID19253976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:108415370..108421270hg38UCSC Ensembl
OuterchrX:107658600..107664500hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg385901
hg195901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977922
SamplesKWS2
Known GenesCOL4A6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125117
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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