A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3959761



Internal ID19209504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:1403307..1407507hg38UCSC Ensembl
OuterchrX:1522200..1526400hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg384201
hg194201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1119323
Supporting Variants
SamplesKWS1
Known GenesASMTL, ASMTL-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3959761
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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