A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516880



Internal ID15444173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:141136956..141671175hg38UCSC Ensembl
InnerchrX:140231141..140759327hg19UCSC Ensembl
InnerchrX:140058807..140586993hg18UCSC Ensembl
InnerchrX:139956661..140484847hg17UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg38534220
hg19528187
hg18528187
hg17528187
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv677046, nssv654656, nssv655139, nssv661972, nssv689192, nssv660048, nssv701659, nssv679606, nssv675436, nssv654767, nssv698171, nssv701338, nssv692087, nssv661184, nssv655078, nssv694456, nssv672692, nssv692289, nssv660263, nssv694219, nssv697891, nssv702675
Samples
Known GenesLDOC1, SPANXA1, SPANXA2, SPANXA2-OT1, SPANXC
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516880
Frequency
Sample Size2026
Observed Gain21
Observed Loss1
Observed Complex0
Frequencyn/a


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