A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv551483



Internal ID15992206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:70689458..70690945hg38UCSC Ensembl
Innerchr10:72449214..72450701hg19UCSC Ensembl
Innerchr10:72119220..72120707hg18UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg381488
hg191488
hg181488
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1259n54
Supporting Variantsnssv750218, nssv750191, nssv750173, nssv750146, nssv750161, nssv750190, nssv750163, nssv750125, nssv750184, nssv750229, nssv750137, nssv750224, nssv750213, nssv750151, nssv750189, nssv750158, nssv750142, nssv750177, nssv750185, nssv750206, nssv750194, nssv750150, nssv750225, nssv750153, nssv750200, nssv750216, nssv750141, nssv750236, nssv750159, nssv750143, nssv750226, nssv750197, nssv750182, nssv750208, nssv750203, nssv750199, nssv750139, nssv750170, nssv750195, nssv750230, nssv750192, nssv750178, nssv750127, nssv750214, nssv750228, nssv750227, nssv750175, nssv750171, nssv750134, nssv750212, nssv750156, nssv750207, nssv750131, nssv750169, nssv750201, nssv750144, nssv750126, nssv750155, nssv750217, nssv750187, nssv750160, nssv750209, nssv750181, nssv750132, nssv750162, nssv750240, nssv750231, nssv750233, nssv750234, nssv750179, nssv750147, nssv750130, nssv750219, nssv750237, nssv750204, nssv750167, nssv750128, nssv750235, nssv750165, nssv750136, nssv750239, nssv750172, nssv750223, nssv750157, nssv750211, nssv750188, nssv750176, nssv750180, nssv750133, nssv750145, nssv750129, nssv750168, nssv750135, nssv750149, nssv750196, nssv750154, nssv750183, nssv750198, nssv750174, nssv750193, nssv750138, nssv750238, nssv750166, nssv750222, nssv750210, nssv750215, nssv750148, nssv750152, nssv750202, nssv750164, nssv750232, nssv750221, nssv750140, nssv750186, nssv750205, nssv750220
Samples
Known GenesADAMTS14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv551483
Frequency
Sample Size17421
Observed Gain0
Observed Loss116
Observed Complex0
Frequencyn/a


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