A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1077601



Internal ID19319077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:148124779..148132180hg38UCSC Ensembl
chrX:147206299..147213700hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg387402
hg197402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3765480
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1077601
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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