A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054401



Internal ID19143620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:27318256..27412991hg38UCSC Ensembl
Innerchr10:27607185..27701920hg19UCSC Ensembl
Innerchr10:27647191..27741926hg18UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg3894736
hg1994736
hg1894736
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv696n100
Supporting Variantsnssv3519838, nssv3503404
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)nsv1054401
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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