A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1077585



Internal ID19319967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:50019790..50025391hg38UCSC Ensembl
chrX:49784399..49790000hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg385602
hg195602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3767572
SamplesKWP1
Known GenesCLCN5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1077585
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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