A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011684



Internal ID18754218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16544771..16855930hg38UCSC Ensembl
Innerchr1:16871266..17182425hg19UCSC Ensembl
Innerchr1:16743853..17055012hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38311160
hg19311160
hg18311160
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv54n100
Supporting Variantsnssv3475951, nssv3480946, nssv3465466
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)nsv1011684
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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