A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000023



Internal ID18742554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16544771..16851458hg38UCSC Ensembl
Innerchr1:16871266..17177953hg19UCSC Ensembl
Innerchr1:16743853..17050540hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38306688
hg19306688
hg18306688
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv55n100
Supporting Variantsnssv3465140, nssv3481099, nssv3474788
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)nsv1000023
Frequency
Sample Size29084
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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