A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031507



Internal ID19120729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392846..7974520hg38UCSC Ensembl
Innerchr8:7250368..7832042hg19UCSC Ensembl
Innerchr8:7237778..7869452hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38581675
hg19581675
hg18631675
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6936n100
Supporting Variantsnssv3679520, nssv3679540, nssv3679538, nssv3679544, nssv3679518, nssv3679536, nssv3679535, nssv3679534, nssv3679541, nssv3679527, nssv3679530, nssv3679537, nssv3679517, nssv3679526, nssv3679521, nssv3679529, nssv3679542, nssv3679528, nssv3679522, nssv3679543, nssv3679532, nssv3679525, nssv3679519, nssv3679533, nssv3679531, nssv3679524, nssv3679523, nssv3679539
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM66E, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L8, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031507
Frequency
Sample Size11257
Observed Gain27
Observed Loss1
Observed Complex0
Frequencyn/a


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