A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009253



Internal ID19098471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:34434857..34502788hg38UCSC Ensembl
Innerchr2:34659924..34727855hg19UCSC Ensembl
Innerchr2:34513428..34581359hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3867932
hg1967932
hg1867932
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3757n100
Supporting Variantsnssv3580942, nssv3728016, nssv3580952, nssv3580919, nssv3728009, nssv3580944, nssv3580912, nssv3580941, nssv3580945, nssv3580928, nssv3728013, nssv3580932, nssv3728015, nssv3580921, nssv3580923, nssv3580924, nssv3580951, nssv3580925, nssv3580948, nssv3580915, nssv3580927, nssv3580909, nssv3580937, nssv3728018, nssv3580926, nssv3580938, nssv3580930, nssv3580908, nssv3580929, nssv3580943, nssv3728010, nssv3580931, nssv3580940, nssv3728019, nssv3580935, nssv3580913, nssv3728014, nssv3580947, nssv3580933, nssv3580914, nssv3580939, nssv3728011, nssv3580917, nssv3728012, nssv3728020, nssv3580950, nssv3580911, nssv3580910, nssv3580949, nssv3580946, nssv3580922, nssv3580918, nssv3580920, nssv3728017, nssv3580916, nssv3580936, nssv3580934
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009253
Frequency
Sample Size11257
Observed Gain57
Observed Loss0
Observed Complex0
Frequencyn/a


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