A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056622



Internal ID19145841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18455623..18629085hg38UCSC Ensembl
Innerchr17:18358937..18532398hg19UCSC Ensembl
Innerchr17:18299662..18473123hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38173463
hg19173462
hg18173462
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3113n100
Supporting Variantsnssv3719973
Samples
Known GenesCCDC144B, FAM106A, LGALS9C, USP32P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056622
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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