A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000283



Internal ID19089500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:72546225..72622475hg38UCSC Ensembl
Innerchr1:73011908..73088158hg19UCSC Ensembl
Innerchr1:72784496..72860746hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3876251
hg1976251
hg1876251
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv195n100
Supporting Variantsnssv3477618, nssv3473765, nssv3699579, nssv3466335, nssv3476792, nssv3470458, nssv3699578, nssv3471238, nssv3699585, nssv3475799, nssv3699584, nssv3465995, nssv3479593, nssv3480376, nssv3480319, nssv3465539, nssv3699583, nssv3699581, nssv3470270, nssv3465056, nssv3474518, nssv3469043, nssv3468326, nssv3479438, nssv3467655, nssv3699582, nssv3471665, nssv3699586, nssv3470835, nssv3469822, nssv3479836, nssv3478525, nssv3472473, nssv3482109, nssv3475539, nssv3463036, nssv3465579, nssv3699580
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)nsv1000283
Frequency
Sample Size11257
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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