A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130620



Internal ID19283751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:71903370..71903687hg38UCSC Ensembl
OuterchrX:71123220..71123537hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4256n106
Supporting Variantsnssv3975119, nssv3989332
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130620
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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