A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054468



Internal ID19143687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:27318256..27413580hg38UCSC Ensembl
Innerchr10:27607185..27702509hg19UCSC Ensembl
Innerchr10:27647191..27742515hg18UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg3895325
hg1995325
hg1895325
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv696n100
Supporting Variantsnssv3518114, nssv3503900, nssv3511263, nssv3516804, nssv3707735, nssv3515325, nssv3707740, nssv3707736, nssv3518362, nssv3504132, nssv3707741, nssv3518663, nssv3707739, nssv3521693, nssv3509844, nssv3502906, nssv3517393, nssv3707738, nssv3518034, nssv3707734, nssv3515753, nssv3509888, nssv3512111, nssv3506987, nssv3516678, nssv3514040, nssv3511196, nssv3508196, nssv3517596, nssv3517953, nssv3508384, nssv3513578, nssv3506343, nssv3503663, nssv3517711, nssv3707737, nssv3502898, nssv3513364
Samples
Known GenesPTCHD3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054468
Frequency
Sample Size11257
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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