A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997485



Internal ID18810335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16690365..16921891hg38UCSC Ensembl
Innerchr1:17016860..17248386hg19UCSC Ensembl
Innerchr1:16889447..17120973hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38231527
hg19231527
hg18231527
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv86n100
Supporting Variantsnssv3699968
Samples
Known GenesESPNP, LOC729574, MIR3675, MST1L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997485
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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