A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057755



Internal ID19146974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42501264..42559770hg38UCSC Ensembl
Innerchr22:42897270..42955776hg19UCSC Ensembl
Innerchr22:41227214..41285720hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3858507
hg1958507
hg1858507
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4577n100
Supporting Variantsnssv3737409, nssv3592055
Samples
Known GenesRRP7A, SERHL, SERHL2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057755
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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