A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008344



Internal ID19097562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25269444..25320186hg38UCSC Ensembl
Innerchr1:25595935..25646677hg19UCSC Ensembl
Innerchr1:25468522..25519264hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3850743
hg1950743
hg1850743
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv138n100
Supporting Variantsnssv3700879, nssv3467035, nssv3468337, nssv3700880, nssv3467195, nssv3480386, nssv3479312, nssv3700876, nssv3471158, nssv3700877, nssv3700881, nssv3471364, nssv3477510, nssv3700878, nssv3471031
Samples
Known GenesRHD
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008344
Frequency
Sample Size11257
Observed Gain12
Observed Loss3
Observed Complex0
Frequencyn/a


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