A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022171



Internal ID18764705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7357077..7919637hg38UCSC Ensembl
Innerchr8:7214599..7777159hg19UCSC Ensembl
Innerchr8:7202009..7814569hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38562561
hg19562561
hg18612561
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6910n100
Supporting Variantsnssv3678576, nssv3678579, nssv3678584, nssv3678589, nssv3678583, nssv3678578, nssv3678587, nssv3678586, nssv3678581, nssv3678588, nssv3678577, nssv3678585, nssv3678580, nssv3754164, nssv3678582
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022171
Frequency
Sample Size29084
Observed Gain13
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer