A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993195



Internal ID19243587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:74872565..74888065hg38UCSC Ensembl
OuterchrX:74092400..74107900hg19UCSC Ensembl
CytobandXq13.3
Allele length
AssemblyAllele length
hg3815501
hg1915501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141689
Supporting Variants
SamplesKWS2
Known GenesKIAA2022
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993195
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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