A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3959782



Internal ID19223661
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 StatusS
Merged Variantsnsv1119342
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3959782
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer