A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110621



Internal ID19276044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:130959326..130963826hg38UCSC Ensembl
OuterchrX:130093300..130097800hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg384501
hg194501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4290n106
Supporting Variantsnssv3960276
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110621
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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