A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110607



Internal ID19257546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:64296820..64302120hg38UCSC Ensembl
OuterchrX:63516700..63522000hg19UCSC Ensembl
CytobandXq11.2
Allele length
AssemblyAllele length
hg385301
hg195301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4249n106
Supporting Variantsnssv3960262
SamplesKWS1
Known GenesMTMR8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110607
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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