A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978446



Internal ID18896679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:102417779..102422079hg38UCSC Ensembl
OuterchrX:101672700..101677000hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg384301
hg194301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115883
Supporting Variants
SamplesKWS2
Known GenesNXF2, NXF2B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978446
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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