A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999502



Internal ID16945768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:135973842..135974541hg38UCSC Ensembl
OuterchrX:135056001..135056700hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38700
hg19700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953696
Supporting Variants
SamplesBILGI_BIOE
Known GenesMMGT1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999502
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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