A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3995062



Internal ID18872157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:130110125..130111325hg38UCSC Ensembl
OuterchrX:129244100..129245300hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1144322
Supporting Variants
SamplesKWS1
Known GenesELF4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3995062
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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