A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119342



Internal ID19260483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:62471130..62670230hg38UCSC Ensembl
OuterchrX:61690600..61889700hg19UCSC Ensembl
CytobandXq11.1
Allele length
AssemblyAllele length
hg38199101
hg19199101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959782
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119342
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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