A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061073



Internal ID19150292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18385668..18561895hg38UCSC Ensembl
Innerchr17:18288982..18465209hg19UCSC Ensembl
Innerchr17:18229707..18405934hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38176228
hg19176228
hg18176228
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3110n100
Supporting Variantsnssv3719939, nssv3560438
Samples
Known GenesCCDC144B, EVPLL, FAM106A, FLJ35934, KRT16P1, LGALS9C, LOC339240, USP32P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061073
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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