A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009896



Internal ID18752427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16559628..16864355hg38UCSC Ensembl
Innerchr1:16886123..17190850hg19UCSC Ensembl
Innerchr1:16758710..17063437hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38304728
hg19304728
hg18304728
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv54n100
Supporting Variantsnssv3476009, nssv3463966, nssv3698861
Samples
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1L, MST1P2, NBPF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009896
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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