A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993181



Internal ID19240620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:48371467..48406058hg38UCSC Ensembl
OuterchrX:48230900..48265500hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3834592
hg1934601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141675
Supporting Variants
SamplesKWS2
Known GenesSSX4, SSX4B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993181
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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