A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3063919



Internal ID21195449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:101900289..101900341hg38UCSC Ensembl
chrX:101155262..101155314hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1668n140
Supporting Variantsnssv14036289
SamplesNA12878
Known GenesZMAT1
MethodSequencing
AnalysisCombines the NGS (e.g., Illumina) and SMS (e.g., Pacbio) for detecting large and small SVs (parameters the same as commit eee31f6 of https://bitbucket.org/xianfan/hybridassemblysv)
Platform
Comments
ReferenceFan_et_al_2017
Pubmed ID28104618
Accession Number(s)nsv3063919
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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