A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977929



Internal ID19236029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:127359817..127367817hg38UCSC Ensembl
OuterchrX:126493800..126501800hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125123
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977929
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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