A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv690058



Internal ID15080024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:71888508..71918800hg38UCSC Ensembl
InnerchrX:71108358..71138650hg19UCSC Ensembl
InnerchrX:71025083..71055375hg18UCSC Ensembl
InnerchrX:70891379..70921671hg17UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg3830293
hg1930293
hg1830293
hg1730293
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517419
Supporting Variants
Samples
Known GenesNHSL2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv690058
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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