A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977936



Internal ID19236815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:144164094..144167894hg38UCSC Ensembl
OuterchrX:143247200..143251000hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg383801
hg193801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125130
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977936
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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