A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000897



Internal ID16947163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:70348951..70349950hg38UCSC Ensembl
OuterchrX:69568801..69569800hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953427
Supporting Variants
SamplesBILGI_BIOE
Known GenesKIF4A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000897
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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