A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004542



Internal ID19093760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16544771..16935740hg38UCSC Ensembl
Innerchr1:16871266..17262235hg19UCSC Ensembl
Innerchr1:16743853..17134822hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38390970
hg19390970
hg18390970
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv55n100
Supporting Variantsnssv3698846, nssv3698847, nssv3470692, nssv3698849, nssv3698851, nssv3482734, nssv3473406, nssv3467641, nssv3481170, nssv3698850, nssv3477643, nssv3464130, nssv3468509, nssv3478511, nssv3480201, nssv3466307, nssv3698848, nssv3469139, nssv3464018, nssv3479411, nssv3470257, nssv3475503
Samples
Known GenesCROCC, CROCCP2, 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)nsv1004542
Frequency
Sample Size11257
Observed Gain21
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer